Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. (Record no. 27290636)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02356 a2200781 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517161154.0 |
| 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 | 1546-1726 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/nn.4589 |
| 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 | Geisheker, Madeleine R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170905 |
| 245 00 - TITLE STATEMENT | |
| Title | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature neuroscience |
| Date of publication, distribution, etc. | Aug 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1043-1051 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 | Amino Acid Sequence |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Autistic 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, AMPA |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Glutamate |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heymann, Gabriel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Tianyun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Coe, Bradley P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Turner, Tychele N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stessman, Holly A F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoekzema, Kendra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kvarnung, Malin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friend, Kathryn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Liebelt, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barnett, Christopher |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thompson, Elizabeth M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haan, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guo, Hui |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderlid, Britt-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordgren, Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindstrand, Anna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vandeweyer, Geert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alberti, Antonino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Avola, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vinci, Mirella |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giusto, Stefania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pramparo, Tiziano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pierce, Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nalabolu, Srinivasa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michaelson, Jacob J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sedlacek, Zdenek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santen, Gijs W E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peeters, Hilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hakonarson, Hakon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Courchesne, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romano, Corrado |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kooy, R Frank |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bernier, Raphael A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nordenskjöld, Magnus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gecz, Jozef |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xia, Kun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zweifel, Larry S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eichler, Evan E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature neuroscience |
| Related parts | vol. 20 |
| -- | no. 8 |
| -- | p. 1043-1051 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/nn.4589">https://doi.org/10.1038/nn.4589</a> |
| Public note | Available from publisher's website |
No items available.