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.




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