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RYR1 c.244_245delinsTG ;(p.A82C)
Variant ID: 19-38933067-GC-TG
NM_000540.2(
RYR1
):c.244_245delinsTG;(p.A82C)
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:
Synthesis, Crystal Structure, UV-Vis Adsorption Properties, Photoelectric Behavior, and DFT Computational Study of All-Inorganic and Lead-Free Copper Halide Salt K2Cu2Cl6.
Acs Omega
Zhou, Huawei H; Liu, Xuejing X; He, Guohang G; Fan, Lin L; Shi, Shaozhen S; Wei, Jiazhen J; Xu, Wenli W; Yuan, Cang C; Chai, Ning N; Chen, Baoli B; Zhang, Yingtian Y; Zhang, Xianxi X; Zhao, Jinsheng J; Wei, Xinting X; Yin, Jie J; Tian, Dongxu D
Publication Date: 2018-10-31
Variant appearance in text: MHS: A82C
PubMed Link:
31458097
Variant Present in the following documents:
Main text
View BVdb publication page
SeqOthello: querying RNA-seq experiments at scale.
Genome Biology
Yu, Ye Y; Liu, Jinpeng J; Liu, Xinan X; Zhang, Yi Y; Magner, Eamonn E; Lehnert, Erik E; Qian, Chen C; Liu, Jinze J
Publication Date: 2018-10-19
Variant appearance in text: RYR1: A82C
PubMed Link:
30340508
Variant Present in the following documents:
13059_2018_1535_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page