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MST1R c.749_750delinsAC ;(p.V250D)
Variant ID: 3-49940293-CA-GT
NM_002447.2(
MST1R
):c.749_750delinsAC;(p.V250D)
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:
Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Choudhary, Deepanshu D; Narui, Yoshie Y; Neel, Brandon L BL; Wimalasena, Lahiru N LN; Klanseck, Carissa F CF; De-la-Torre, Pedro P; Chen, Conghui C; Araya-Secchi, Raul R; Tamilselvan, Elakkiya E; Sotomayor, Marcos M
Publication Date: 2020-10-06
Variant appearance in text: SEA: V250D
PubMed Link:
32963095
Variant Present in the following documents:
Main text
View BVdb publication page