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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGSF1

Variant:p.S863C

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IGSF1

NM_001170961.2:p.S863C

hg38:chrX:131276974 G>C

Associated Papers

A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report.

Heinen CA et al.

Journal of the Endocrine Society, 2017

29264525 (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."