Nonsense variants of
Disease genetics
Next-generation sequencing
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2020
2020
Historique:
received:
23
06
2020
revised:
10
08
2020
accepted:
12
08
2020
entrez:
5
10
2020
pubmed:
6
10
2020
medline:
6
10
2020
Statut:
epublish
Résumé
Herein, we report two female cases with novel nonsense mutations of
Identifiants
pubmed: 33014403
doi: 10.1038/s41439-020-00114-w
pii: 114
pmc: PMC7501222
doi:
Types de publication
Journal Article
Langues
eng
Pagination
26Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Conflict of interestThe authors declare that they have no conflict of interest.
Références
Am J Hum Genet. 2012 Oct 5;91(4):597-607
pubmed: 23040492
Clin Genet. 2016 Jan;89(1):68-73
pubmed: 25677961
Nat Commun. 2019 Apr 11;10(1):1686
pubmed: 30975996
Am J Med Genet A. 2017 May;173(5):1319-1327
pubmed: 28296084
Epilepsia. 2019 May;60(5):797-806
pubmed: 30951195
Hum Mol Genet. 2015 Aug 15;24(16):4764-73
pubmed: 26034137
Eur J Med Genet. 2015 Feb;58(2):116-21
pubmed: 25450604
Mol Genet Genomic Med. 2019 Feb;7(2):e00501
pubmed: 30447054
BMC Genomics. 2011 Apr 12;12:184
pubmed: 21486468
Brain. 2019 Sep 1;142(9):2631-2643
pubmed: 31334757
J Hum Genet. 2018 Oct;63(10):1049-1054
pubmed: 30018422
Am J Hum Genet. 2012 Jun 8;90(6):1014-27
pubmed: 22633399
NPJ Genom Med. 2017 Mar 20;2:7
pubmed: 29263825
Genet Med. 2019 Mar;21(3):663-675
pubmed: 30158690
Clin Genet. 2014 May;85(5):446-51
pubmed: 23683030
Am J Hum Genet. 2006 Sep;79(3):493-9
pubmed: 16909387
Nat Rev Genet. 2018 Oct;19(10):649-666
pubmed: 29995837