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HMCN1 c.6154G>C ;(p.V2052L)
Variant ID: 1-186008985-G-C
NM_031935.2(
HMCN1
):c.6154G>C;(p.V2052L)
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:
Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.
Computational And Structural Biotechnology Journal
Shi, Xin X; Zhang, Li L; Bai, Kai K; Xie, Huilin H; Shi, Tieliu T; Zhang, Ruilin R; Fu, Qihua Q; Chen, Sun S; Lu, Yanan Y; Yu, Yu Y; Sun, Kun K
Publication Date: 2020
Variant appearance in text: HMCN1: V2052L
PubMed Link:
32128068
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page