USH2A c.13887G>T ;(p.E4629D)

Variant ID: 1-215844560-C-A

NM_206933.2(USH2A):c.13887G>T;(p.E4629D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.

International Journal Of Molecular Sciences
Inaba, Akira A; Maeda, Akiko A; Yoshida, Akiko A; Kawai, Kanako K; Hirami, Yasuhiko Y; Kurimoto, Yasuo Y; Kosugi, Shinji S; Takahashi, Masayo M
Publication Date: 2020-10-22

Variant appearance in text: USH2A: 13887G>T; Glu4629Asp
PubMed Link: 33105608
Variant Present in the following documents:
  • Main text
  • ijms-21-07817.pdf
View BVdb publication page



Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications
Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J
Publication Date: 2020-09-28

Variant appearance in text: USH2A: 13887G>T; Glu4629Asp
PubMed Link: 32985499
Variant Present in the following documents:
  • 41467_2020_18702_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page