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USH2A c.7698T>A ;(p.Y2566*)
Variant ID: 1-216062293-A-T
NM_206933.2(
USH2A
):c.7698T>A;(p.Y2566*)
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 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing.
Bioscience Reports
Qu, Ling-Hui LH; Jin, Xin X; Long, Yan-Ling YL; Ren, Jia-Yun JY; Weng, Chuang-Huang CH; Xu, Hai-Wei HW; Liu, Yong Y; Meng, Xiao-Hong XH; Li, Shi-Ying SY; Yin, Zheng-Qin ZQ
Publication Date: 2020-01-31
Variant appearance in text: USH2A: 7698T>A; Y2566X
PubMed Link:
31904091
Variant Present in the following documents:
Main text
bsr-40-bsr20193536.pdf
View BVdb publication page