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GPX7 c.317G>A ;(p.R106H)
Variant ID: 1-53072534-G-A
NM_015696.4(
GPX7
):c.317G>A;(p.R106H)
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:
Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.
Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022
Variant appearance in text: GPX7: 317G>A; R106H; rs758042487
PubMed Link:
35910219
Variant Present in the following documents:
DataSheet1.xlsx, sheet 7
View BVdb publication page
Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.
Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23
Variant appearance in text: GPX7: R106H
PubMed Link:
28535796
Variant Present in the following documents:
13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page