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DNAH11 c.4150G>A ;(p.E1384K)
Variant ID: 7-21657291-G-A
NM_001277115.1(
DNAH11
):c.4150G>A;(p.E1384K)
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:
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06
Variant appearance in text: DNAH11: 4150G>A
PubMed Link:
29510755
Variant Present in the following documents:
12920_2018_Article_338.pdf
View BVdb publication page