TYR c.1266G>A ;(p.R422=)

Variant ID: 11-89018022-G-A

NM_000372.4(TYR):c.1266G>A;(p.R422=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Investigative Ophthalmology & Visual Science
Onojafe, Ighovie F IF; Megan, Lucyanne H LH; Melch, Madeline G MG; Aderemi, Joseph O JO; Alur, Ramakrishna P RP; Abu-Asab, Mones S MS; Chan, Chi-Chao CC; Bernardini, Isa M IM; Albert, Jessica S JS; Cogliati, Tiziana T; Adams, David R DR; Brooks, Brian P BP
Publication Date: 2018-10-01

Variant appearance in text: TYR: 1266G>A
PubMed Link: 30347088
Variant Present in the following documents:
  • Main text
  • i1552-5783-59-12-4945.pdf
View BVdb publication page