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PTS c.224A>C ;(p.D75A)
Variant ID: 11-112101386-A-C
NM_000317.2(
PTS
):c.224A>C;(p.D75A)
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:
Cochlin Deficiency Protects Against Noise-Induced Hearing Loss.
Frontiers In Molecular Neuroscience
Seist, Richard R; Landegger, Lukas D LD; Robertson, Nahid G NG; Vasilijic, Sasa S; Morton, Cynthia C CC; Stankovic, Konstantina M KM
Publication Date: 2021
Variant appearance in text: PTS: D75A
PubMed Link:
34108864
Variant Present in the following documents:
Main text
fnmol-14-670013.pdf
View BVdb publication page
Protection from noise-induced cochlear synaptopathy by virally mediated overexpression of NT3.
Scientific Reports
Hashimoto, Ken K; Hickman, Tyler T TT; Suzuki, Jun J; Ji, Lingchao L; Kohrman, David C DC; Corfas, Gabriel G; Liberman, M Charles MC
Publication Date: 2019-10-25
Variant appearance in text: PTS: D75A
PubMed Link:
31653916
Variant Present in the following documents:
Main text
View BVdb publication page