Bibliome.ai browser hg19
Search
About
Stats
FAQ
KIT c.2484+5G>T
Variant ID: 4-55599363-G-T
NM_000222.2(
KIT
):c.2484+5G>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:
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.
Medicina (Kaunas, Lithuania)
Gironi, Laura Cristina LC; Colombo, Enrico E; Brusco, Alfredo A; Grosso, Enrico E; Naretto, Valeria Giorgia VG; Guala, Andrea A; Di Gregorio, Eleonora E; Zonta, Andrea A; Zottarelli, Francesca F; Pasini, Barbara B; Savoia, Paola P
Publication Date: 2019-07-07
Variant appearance in text: KIT: 2484+5G>T
PubMed Link:
31284637
Variant Present in the following documents:
Main text
medicina-55-00345.pdf
View BVdb publication page