Varaico: Literature-Extracted Genetic Variants

Gene:SLC45A2
Variant:p.V87fs
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SLC45A2

NM_016180.5:p.V87fs

Associated Papers

Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.

Seguy PH et al.

Investigative Ophthalmology & Visual Science, 2023

37707835 (PubMed )
Supplement: iovs-64-12-26_s001.xlsx › Feuil2

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

Moreno-Artero E et al.

Genes, 2022

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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."