Patterns of genic intolerance of rare copy number variation in 59,898 human exomes. (Record no. 26335936)

MARC details
000 -LEADER
fixed length control field 01468 a2200457 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517112046.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201706s 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.3638
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 Ruderfer, Douglas M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20170623
245 00 - TITLE STATEMENT
Title Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Nature genetics
Date of publication, distribution, etc. 10 2016
300 ## - PHYSICAL DESCRIPTION
Extent 1107-11 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
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 Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Copy Number Variations
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Databases, Genetic
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Exome
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 Gene Frequency
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 Genome, Human
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 Polymorphism, Single Nucleotide
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Schizophrenia
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hamamsy, Tymor
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 Kavanagh, David
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Samocha, Kaitlin E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Daly, Mark J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name MacArthur, Daniel G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fromer, Menachem
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Purcell, Shaun M
773 0# - HOST ITEM ENTRY
Title Nature genetics
Related parts vol. 48
-- no. 10
-- p. 1107-11
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1038/ng.3638">https://doi.org/10.1038/ng.3638</a>
Public note Available from publisher's website

No items available.