Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.Q487*
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SLC45A2

NM_016180.5:p.Q487*

Associated Papers

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.

Nagy N et al.

International Journal of Molecular Sciences, 2024

Delineating the genetic heterogeneity of OCA in Hungarian patients.

Fábos B et al.

European Journal of Medical Research, 2017

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.

Tóth L et al.

Bmc Medical Genetics, 2017

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