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RYR1 c.12508_12509inv ;(p.L4170S)
Variant ID: 19-39051978-CT-AG
NM_000540.2(
RYR1
):c.12508_12509inv;(p.L4170S)
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:
Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.
Frontiers In Oncology
Gao, Jian J; Xi, Lei L; Yu, Rentao R; Xu, Huailong H; Wu, Min M; Huang, Hong H
Publication Date: 2021
Variant appearance in text: RYR1: L4170S
PubMed Link:
33996539
Variant Present in the following documents:
Main text
fonc-11-596789.pdf
View BVdb publication page