Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.G188V
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SLC45A2

NM_016180.5:p.G188V

Associated Papers

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants.

Okamura K et al.

Pigment Cell & Melanoma Research, 2025

Current landscape of Oculocutaneous Albinism in Japan.

Okamura K et al.

Pigment Cell & Melanoma Research, 2021

Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.

Bibi N et al.

Frontiers in Genetics, 2020

32849781 (PubMed )
Supplement: Data_Sheet_2.docx

Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4.

Ozaki S et al.

Acta Dermato-venereologica, 2017

Investigating polymorphisms in membrane-associated transporter protein SLC45A2, using sucrose transporters as a model.

Reinders A et al.

Molecular Medicine Reports, 2015

Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.

Hao DC et al.

European Journal of Drug Metabolism and Pharmacokinetics, 2013

Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.

Suzuki T et al.

Journal of Dermatological Science, 2008

Oculocutaneous albinism type 4: six novel mutations in the membrane-associated transporter protein gene and their phenotypes.

Inagaki K et al.

Pigment Cell Research, 2006

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Inagaki K et al.

American Journal of Human Genetics, 2004

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