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.




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