TYR c.1207_1208delinsGT ;(p.R403V)

Variant ID: 11-89017963-AG-GT

NM_000372.4(TYR):c.1207_1208delinsGT;(p.R403V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
Simeonov, Dimitre R DR; Wang, Xinjing X; Wang, Chen C; Sergeev, Yuri Y; Dolinska, Monika M; Bower, Matthew M; Fischer, Roxanne R; Winer, David D; Dubrovsky, Genia G; Balog, Joan Z JZ; Huizing, Marjan M; Hart, Rachel R; Zein, Wadih M WM; Gahl, William A WA; Brooks, Brian P BP; Adams, David R DR
Publication Date: 2013-06

Variant appearance in text: TYR: R403V
PubMed Link: 23504663
Variant Present in the following documents:
  • Main text
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