Publications:

Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience

Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X

Publication Date: 2017

Variant appearance in text: TYR: 1309G>A

PubMed Link: 28451379

Variant Present in the following documents:

• Main text

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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: 1309G>A; D437N

PubMed Link: 23504663

Variant Present in the following documents:

• Main text

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