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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INSIG2

Variant:p.Q50*

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INSIG2

NM_016133.4:p.Q50*

hg38:chr2:118096704 C>T

Associated Papers

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Futema M et al.

Journal of Medical Genetics, 2014

24987033 (PubMed )

Supplement: jmedgenet-2014-102405-s1.pdf

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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."