Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. (Record no. 26874852)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01572 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517140402.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201709s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.3789 |
| 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 | Kosmicki, Jack A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170905 |
| 245 00 - TITLE STATEMENT | |
| Title | Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Apr 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 504-510 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 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 | Neurodevelopmental Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Samocha, Kaitlin E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Howrigan, Daniel P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanders, Stephan J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slowikowski, Kamil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lek, Monkol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karczewski, Konrad J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cutler, David J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Devlin, Bernie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roeder, Kathryn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buxbaum, Joseph D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Neale, Benjamin M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacArthur, Daniel G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wall, Dennis P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, Elise B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, Mark J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 49 |
| -- | no. 4 |
| -- | p. 504-510 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.3789">https://doi.org/10.1038/ng.3789</a> |
| Public note | Available from publisher's website |
No items available.