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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC2

Variant:p.V126M

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NPC2

NM_006432.5:p.V126M

hg38:chr14:74480767 C>T

Associated Papers

Novel Mutation in the Feline NPC2 Gene in Cats with Niemann-Pick Disease.

Rakib TM et al.

Animals : an Open Access Journal From Mdpi, 2023

37458497 (PubMed )

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