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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC2

Variant:p.V30fs

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NPC2

NM_006432.5:p.V30fs

hg38:chr14:74486431 CAC>N

Associated Papers

Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.

Sudrié-Arnaud B et al.

Diagnostics (basel, Switzerland), 2021

33673364 (PubMed )

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