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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPC1

Variant:p.A1058A

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NPC1

NM_000271.5:p.A1058A

hg38:chr18:23536744 G>T

Associated Papers

Generation and characterization of human iPSC-derived NPC1 I1061T/I10161T i 3 Neurons as a model for NPC1 disease.

Salhotra S et al.

Biorxiv : the Preprint Server for Biology, 2026

41726996 (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."