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KIT c.262G>T ;(p.E88*)
Variant ID: 4-55561872-G-T
NM_000222.2(
KIT
):c.262G>T;(p.E88*)
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:
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.
Orphanet Journal Of Rare Diseases
Holopainen, Elina E; Vakkilainen, Svetlana S; Mäkitie, Outi O
Publication Date: 2018-11-16
Variant appearance in text: KIT: 262G>T
PubMed Link:
30445974
Variant Present in the following documents:
Main text
13023_2018_Article_945.pdf
View BVdb publication page