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SI c.574G>T ;(p.V192L)
Variant ID: 3-164785189-C-A
NM_001041.3(
SI
):c.574G>T;(p.V192L)
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:
POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Plos One
Kitano, Tomohiro T; Miyagawa, Maiko M; Nishio, Shin-Ya SY; Moteki, Hideaki H; Oda, Kiyoshi K; Ohyama, Kenji K; Miyazaki, Hiromitsu H; Hidaka, Hiroshi H; Nakamura, Ken-Ichi KI; Murata, Takaaki T; Matsuoka, Rina R; Ohta, Yoko Y; Nishiyama, Nobuhiro N; Kumakawa, Kozo K; Furutate, Sakiko S; Iwasaki, Satoshi S; Yamada, Takechiyo T; Ohta, Yumi Y; Uehara, Natsumi N; Noguchi, Yoshihiro Y; Usami, Shin-Ichi SI
Publication Date: 2017
Variant appearance in text: SI: 574G>T
PubMed Link:
28545070
Variant Present in the following documents:
Main text
View BVdb publication page