Varaico: Literature-Extracted Genetic Variants

Gene:NPC2
Variant:p.K105delFs
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NPC2

NM_006432.5:p.K105delFs

Associated Papers

Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.

Kara C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."