Varaico: Literature-Extracted Genetic Variants

Gene:SLC24A5
Variant:p.K462_L463insFs
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SLC24A5

NM_205850.3:p.K462_L463insFs

Associated Papers

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.

Monfermé S et al.

The British Journal of Ophthalmology, 2019

Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Mauri L et al.

Journal of Human Genetics, 2017

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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."