Varaico: Literature-Extracted Genetic Variants

Gene:HPS5
Variant:p.E503*
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HPS5

NM_181507.2:p.E503*

Associated Papers

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

Sergouniotis PI et al.

Journal of Medical Genetics, 2023

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Lenassi E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."