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USH2A c.11123C>T ;(p.P3708L)
Variant ID: 1-215933110-G-A
NM_206933.2(
USH2A
):c.11123C>T;(p.P3708L)
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:
Identification of sequence variants associated with severe microtia-astresia by targeted sequencing.
Bmc Medical Genomics
Wang, Pu P; Wang, Yibei Y; Fan, Xinmiao X; Liu, Yaping Y; Fan, Yue Y; Liu, Tao T; Chen, Chongjian C; Zhang, Shuyang S; Chen, Xiaowei X
Publication Date: 2019-01-28
Variant appearance in text: USH2A: 11123C>T; P3708L
PubMed Link:
30691450
Variant Present in the following documents:
Main text
12920_2019_Article_475.pdf
View BVdb publication page