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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.P237Q

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NPC1

NM_000271.5:p.P237Q

hg38:chr18:23560402 G>T

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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