Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (Record no. 29434667)
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fixed length control field | 05326 a2201789 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250518025142.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201912s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1537-6605 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1016/j.ajhg.2019.01.010 |
Source of number or code | doi |
040 ## - CATALOGING SOURCE | |
Original cataloging agency | NLM |
Language of cataloging | eng |
Transcribing agency | NLM |
100 1# - MAIN ENTRY--PERSONAL NAME | |
Personal name | Cogné, Benjamin |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20191218 |
245 00 - TITLE STATEMENT | |
Title | Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | American journal of human genetics |
Date of publication, distribution, etc. | 03 2019 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 530-541 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Adaptor Proteins, Signal Transducing |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Adolescent |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Adult |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Amino Acid Sequence |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Autistic Disorder |
General subdivision | etiology |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Child |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Child, Preschool |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Female |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genetic Association Studies |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Humans |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Infant |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Intellectual Disability |
General subdivision | etiology |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Male |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation, Missense |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Nuclear Proteins |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Prognosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sequence Homology |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Syndrome |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Young Adult |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ehresmann, Sophie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Beauregard-Lacroix, Eliane |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rousseau, Justine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Besnard, Thomas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Garcia, Thomas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Petrovski, Slavé |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Avni, Shiri |
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Personal name | McWalter, Kirsty |
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Personal name | Blackburn, Patrick R |
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Personal name | Sanders, Stephan J |
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Personal name | Uguen, Kévin |
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Personal name | Harris, Jacqueline |
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Personal name | Cohen, Julie S |
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Personal name | Blyth, Moira |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lehman, Anna |
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Personal name | Berg, Jonathan |
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Personal name | Li, Mindy H |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kini, Usha |
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Personal name | Joss, Shelagh |
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Personal name | von der Lippe, Charlotte |
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Personal name | Gordon, Christopher T |
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Personal name | Humberson, Jennifer B |
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Personal name | Robak, Laurie |
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Personal name | Scott, Daryl A |
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Personal name | Sutton, Vernon R |
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Personal name | Skraban, Cara M |
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Personal name | Johnston, Jennifer J |
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Personal name | Poduri, Annapurna |
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Personal name | Nordenskjöld, Magnus |
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Personal name | Shashi, Vandana |
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Personal name | Gerkes, Erica H |
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Personal name | Bongers, Ernie M H F |
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Personal name | Gilissen, Christian |
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Personal name | Zarate, Yuri A |
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Personal name | Kvarnung, Malin |
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Personal name | Lally, Kevin P |
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Personal name | Kulch, Peggy A |
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Personal name | Daniels, Brina |
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Personal name | Hernandez-Garcia, Andres |
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Personal name | Stong, Nicholas |
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Personal name | McGaughran, Julie |
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Personal name | Retterer, Kyle |
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Personal name | Tveten, Kristian |
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Personal name | Sullivan, Jennifer |
700 1# - ADDED ENTRY--PERSONAL NAME | |
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Personal name | Stray-Pedersen, Asbjorg |
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Personal name | Tarpinian, Jennifer M |
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Personal name | Klee, Eric W |
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Personal name | Sapp, Julie C |
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Personal name | Bedoukian, Emma |
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Personal name | Filippini, Francesca |
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Personal name | Guimier, Anne |
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Personal name | Picard, Arnaud |
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Personal name | Coban Akdemir, Zeynep H |
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Personal name | Denommé-Pichon, Anne-Sophie |
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Personal name | Férec, Claude |
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Personal name | Yang, Xiang-Jiao |
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Personal name | Rosenfeld, Jill A |
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Personal name | Audebert-Bellanger, Séverine |
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Personal name | Redon, Richard |
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Personal name | Stessman, Holly A F |
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Personal name | Nellaker, Christoffer |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yang, Yaping |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lupski, James R |
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Personal name | Goldstein, David B |
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Personal name | Eichler, Evan E |
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Personal name | Bolduc, Francois |
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Personal name | Bézieau, Stéphane |
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Personal name | Küry, Sébastien |
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Personal name | Campeau, Philippe M |
773 0# - HOST ITEM ENTRY | |
Title | American journal of human genetics |
Related parts | vol. 104 |
-- | no. 3 |
-- | p. 530-541 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2019.01.010">https://doi.org/10.1016/j.ajhg.2019.01.010</a> |
Public note | Available from publisher's website |
No items available.