Publications:

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.

Genes

Moreno-Artero, Ester E; Morice-Picard, Fanny F; Lasseaux, Eulalie E; Robert, Matthieu P MP; Coste, Valentine V; Michaud, Vincent V; Leclerc-Mercier, Stéphanie S; Bremond-Gignac, Dominique D; Arveiler, Benoit B; Hadj-Rabia, Smail S

Publication Date: 2022-11-23

Variant appearance in text: SLC45A2: 179T>G

PubMed Link: 36553465

Variant Present in the following documents:

• genes-13-02198.pdf

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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: SLC45A2: 179T>G; L60R

PubMed Link: 23504663

Variant Present in the following documents:

• Main text

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