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CARS2 c.785+556G>A
Variant ID: 13-111328765-C-T
NM_024537.2(
CARS2
):c.785+556G>A
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:
Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.
Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09
Variant appearance in text: rs2296654
PubMed Link:
32705272
Variant Present in the following documents:
Supplementary_Data1.xlsx, sheet 1
View BVdb publication page