Varaico: Literature-Extracted Genetic Variants

Gene:BORCS5
Variant:p.H99P
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BORCS5

NM_058169.6:p.H99P

Associated Papers

Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.

Mencacci NE et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."