Varaico: Literature-Extracted Genetic Variants

Gene:SPTY2D1
Variant:p.S320_P322del3
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SPTY2D1

NM_194285.3:p.S320_P322del3

Associated Papers

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong KHY et al.

Molecular Genetics & Genomic Medicine, 2019

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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."