Varaico: Literature-Extracted Genetic Variants

Gene:DCT
Variant:p.G59V
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DCT

NM_001922.5:p.G59V

Associated Papers

The Dct-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.

Tingaud-Sequeira A et al.

Genes, 2022

Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants.

Dolinska MB et al.

International Journal of Molecular Sciences, 2022

Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.

Volk AE et al.

Human Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."