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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCAP

Variant:p.Q701_A702insFs

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SCAP

NM_012235.4:p.Q701_A702insFs

hg38:chr3:47418681 C>CT

Associated Papers

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I et al.

Jimd Reports, 2017

28105569 (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."