Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. (Record no. 29755854)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02223 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518042714.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202005s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41436-019-0557-3 |
| 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 | Nizon, Mathilde |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200501 |
| 245 00 - TITLE STATEMENT | |
| Title | Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 12 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2713-2722 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural |
| 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 | Autism Spectrum Disorder |
| General subdivision | genetics |
| 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 | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 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 | Frameshift Mutation |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 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 | Mediator Complex |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laugel, Vincent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flanigan, Kevin M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pastore, Matthew |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waldrop, Megan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenfeld, Jill A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marom, Ronit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xiao, Rui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerard, Amanda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pichon, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Le Caignec, Cédric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gérard, Marion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dieterich, Klaus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Truitt Cho, Megan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McWalter, Kirsty |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hiatt, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thompson, Michelle L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bézieau, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wadley, Alexandrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wierenga, Klaas J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Egly, Jean-Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 21 |
| -- | no. 12 |
| -- | p. 2713-2722 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-019-0557-3">https://doi.org/10.1038/s41436-019-0557-3</a> |
| Public note | Available from publisher's website |
No items available.