Varaico: Literature-Extracted Genetic Variants

Gene:HPS6
Variant:p.G519delFs
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HPS6

NM_024747.6:p.G519delFs

Associated Papers

Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants.

Zhou B et al.

Ophthalmic Research, 2024

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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."