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GAA c.2510del ;(p.R837Pfs*11)
Variant ID: 17-78092020-CG-C
NM_000152.3(
GAA
):c.2510del;(p.R837Pfs*11)
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:
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
Bmc Medical Genetics
Li, Xin-Hua XH; Lu, Yi Y; Ling, Yun Y; Fu, Qing-Chun QC; Xu, Jie J; Zang, Guo-Qing GQ; Zhou, Feng F; De-Min, Yu Y; Han, Yue Y; Zhang, Dong-Hua DH; Gong, Qi-Ming QM; Lu, Zhi-Meng ZM; Kong, Xiao-Fei XF; Wang, Jian-She JS; Zhang, Xin-Xin XX
Publication Date: 2011-01-11
Variant appearance in text: GAA: 2510delG
PubMed Link:
21219664
Variant Present in the following documents:
Main text
1471-2350-12-6.pdf
View BVdb publication page