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DNAH11 c.4415A>G ;(p.K1472R)
Variant ID: 7-21659611-A-G
NM_001277115.1(
DNAH11
):c.4415A>G;(p.K1472R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014
Variant appearance in text: DNAH11: K1472R
PubMed Link:
25333361
Variant Present in the following documents:
pone.0109576.s002.xls, sheet 3
View BVdb publication page