Guidelines for investigating causality of sequence variants in human disease. (Record no. 23762920)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01891 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516210720.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201408s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-4687 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/nature13127 |
| 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 | MacArthur, D G |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140813 |
| 245 00 - TITLE STATEMENT | |
| Title | Guidelines for investigating causality of sequence variants in human disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature |
| Date of publication, distribution, etc. | Apr 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 469-76 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 | Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | False Positive Reactions |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes |
| 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 | Guidelines as Topic |
| 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 | Information Dissemination |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Publishing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reproducibility of Results |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Research Design |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Translational Research, Biomedical |
| General subdivision | standards |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manolio, T A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dimmock, D P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rehm, H L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shendure, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abecasis, G R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adams, D R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Altman, R B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Antonarakis, S E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ashley, E A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrett, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biesecker, L G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Conrad, D F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cooper, G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cox, N J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, M J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gerstein, M B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldstein, D B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hirschhorn, J N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leal, S M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pennacchio, L A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stamatoyannopoulos, J A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sunyaev, S R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valle, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voight, B F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Winckler, W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gunter, C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature |
| Related parts | vol. 508 |
| -- | no. 7497 |
| -- | p. 469-76 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/nature13127">https://doi.org/10.1038/nature13127</a> |
| Public note | Available from publisher's website |
No items available.