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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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