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PKD1 c.11376G>C ;(p.S3792=)
Variant ID: 16-2142083-C-G
NM_001009944.2(
PKD1
):c.11376G>C;(p.S3792=)
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:
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bmc Nephrology
Bataille, Stanislas S; Berland, Yvon Y; Fontes, Michel M; Burtey, Stéphane S
Publication Date: 2011-10-18
Variant appearance in text: PKD1: 11376G>C; Ser3792Ser
PubMed Link:
22008521
Variant Present in the following documents:
Main text
1471-2369-12-57.pdf
View BVdb publication page