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PKD1 c.11258G>C ;(p.R3753P)
Variant ID: 16-2142492-C-G
NM_001009944.2(
PKD1
):c.11258G>C;(p.R3753P)
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:
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Molecular Genetics & Genomic Medicine
Wang, Tao T; Li, Qinggang Q; Shang, Shunlai S; Geng, Guangrui G; Xie, Yuansheng Y; Cai, Guangyan G; Chen, Xiangmei X
Publication Date: 2019-06
Variant appearance in text: PKD1: 11258G>C; Arg3753Pro
PubMed Link:
31056860
Variant Present in the following documents:
Main text
MGG3-7-e720.pdf
View BVdb publication page