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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCAP

Variant:p.I685T

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SCAP

NM_012235.4:p.I685T

hg38:chr3:47418730 A>G

Associated Papers

Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2.

Qian H et al.

Cell, 2020

32544384 (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."