MN1 c.732_733del ;(p.F244Lfs*7)

Variant ID: 22-28195799-TCA-T

NM_002430.2(MN1):c.732_733del;(p.F244Lfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
Publication Date: 2017

Variant appearance in text: MN1: 732_733delTG
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
  • 13578_2017_Article_149.pdf
View BVdb publication page