Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. (Record no. 29434667)

MARC details
000 -LEADER
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
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Personal name Beauregard-Lacroix, Eliane
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Personal name Rousseau, Justine
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Personal name Besnard, Thomas
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Personal name Garcia, Thomas
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Personal name Petrovski, Slavé
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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
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Personal name Lehman, Anna
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Personal name Berg, Jonathan
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Personal name Li, Mindy H
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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 Skraban, Cara M
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Personal name Johnston, Jennifer J
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Personal name Busk, Øyvind L
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Personal name Ebanks, Ashley Harmon
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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 Gilbert-Dussardier, Brigitte
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Personal name Audebert-Bellanger, Séverine
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Personal name Redon, Richard
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Personal name Nellaker, Christoffer
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Personal name Yang, Yaping
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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.