Pathogenic variants in
Journal
Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
received:
14
10
2020
accepted:
23
03
2021
entrez:
13
5
2021
pubmed:
14
5
2021
medline:
14
5
2021
Statut:
epublish
Résumé
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for more than 50% of the patients remains elusive. We describe pathogenic variants in
Identifiants
pubmed: 33980485
pii: 7/20/eabf2066
doi: 10.1126/sciadv.abf2066
pmc: PMC8115915
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
Organisme : NHLBI NIH HHS
ID : T32 HL007953
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009141
Pays : United States
Organisme : NINDS NIH HHS
ID : DP2 NS111996
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
Copyright © 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).
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