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RAPH1 c.1681A>C ;(p.T561P)
Variant ID: 2-204309686-T-G
NM_213589.1(
RAPH1
):c.1681A>C;(p.T561P)
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:
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Frontiers In Cell And Developmental Biology
Zhu, Yi-Ming YM; Li, Qi Q; Gao, Xue X; Li, Yan-Fei YF; Liu, You-Li YL; Dai, Pu P; Li, Xiang-Ping XP
Publication Date: 2021
Variant appearance in text: RAPH1: 1681A>C
PubMed Link:
34692690
Variant Present in the following documents:
Table_2.xlsx, sheet 3
View BVdb publication page