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USH2A c.8984T>A ;(p.I2995N)
Variant ID: 1-216019237-A-T
NM_206933.2(
USH2A
):c.8984T>A;(p.I2995N)
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:
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Scientific Reports
Ge, Zhongqi Z; Bowles, Kristen K; Goetz, Kerry K; Scholl, Hendrik P N HP; Wang, Feng F; Wang, Xinjing X; Xu, Shan S; Wang, Keqing K; Wang, Hui H; Chen, Rui R
Publication Date: 2015-12-15
Variant appearance in text: USH2A: Ile2995Asn
PubMed Link:
26667666
Variant Present in the following documents:
Main text
srep18287.pdf
View BVdb publication page