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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.F288fs

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NPC1

NM_000271.5:p.F288fs

hg38:chr18:23560250 AAA>N

Associated Papers

Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.

Ito S et al.

Jpgn Reports, 2022

37168916 (PubMed )

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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."