TYR c.368T>C ;(p.I123T)

Variant ID: 11-88911489-T-C

NM_000372.4(TYR):c.368T>C;(p.I123T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: OCA1: 368T>C
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
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