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ARID1A c.2817dup ;(p.M940Hfs*67)
Variant ID: 1-27092795-G-GC
NM_006015.4(
ARID1A
):c.2817dup;(p.M940Hfs*67)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Vandeweyer, Geert G; Helsmoortel, CĂ©line C; Van Dijck, Anke A; Vulto-van Silfhout, Anneke T AT; Coe, Bradley P BP; Bernier, Raphael R; Gerdts, Jennifer J; Rooms, Liesbeth L; van den Ende, Jenneke J; Bakshi, Madhura M; Wilson, Meredith M; Nordgren, Ann A; Hendon, Laura G LG; Abdulrahman, Omar A OA; Romano, Corrado C; de Vries, Bert B A BB; Kleefstra, Tjitske T; Eichler, Evan E EE; Van der Aa, Nathalie N; Kooy, R Frank RF
Publication Date: 2014-09
Variant appearance in text: ARID1A: M940Hfs*67
PubMed Link:
25169753
Variant Present in the following documents:
Main text
View BVdb publication page