TYR c.1076A>T ;(p.Q359L)

Variant ID: 11-88961030-A-T

NM_000372.4(TYR):c.1076A>T;(p.Q359L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research
Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV
Publication Date: 2018

Variant appearance in text: OCAIA: Q359L
PubMed Link: 30868138
Variant Present in the following documents:
  • Main text
  • nihms-1008828.pdf
View BVdb publication page