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TG c.3634+1G>T
Variant ID: 8-133913799-G-T
NM_003235.4(
TG
):c.3634+1G>T
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:
Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing loss.
Embo Molecular Medicine
Ueyama, Takehiko T; Ninoyu, Yuzuru Y; Nishio, Shin-Ya SY; Miyoshi, Takushi T; Torii, Hiroko H; Nishimura, Koji K; Sugahara, Kazuma K; Sakata, Hideaki H; Thumkeo, Dean D; Sakaguchi, Hirofumi H; Watanabe, Naoki N; Usami, Shin-Ichi SI; Saito, Naoaki N; Kitajiri, Shin-Ichiro SI
Publication Date: 2016-11
Variant appearance in text: TG: 3634+1G>T
PubMed Link:
27707755
Variant Present in the following documents:
Main text
EMMM-8-1310-s012.pdf
EMMM-8-1310.pdf
View BVdb publication page