OCA2 c.229T>A ;(p.S77T)

Variant ID: 15-28277308-A-T

NM_000275.2(OCA2):c.229T>A;(p.S77T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

The Journal Of Clinical Investigation
Onojafe, Ighovie F IF; Adams, David R DR; Simeonov, Dimitre R DR; Zhang, Jun J; Chan, Chi-Chao CC; Bernardini, Isa M IM; Sergeev, Yuri V YV; Dolinska, Monika B MB; Alur, Ramakrishna P RP; Brilliant, Murray H MH; Gahl, William A WA; Brooks, Brian P BP
Publication Date: 2011-10

Variant appearance in text: OCA2: 229T>A
PubMed Link: 21968110
Variant Present in the following documents:
  • Main text
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