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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGSNAT

Variant:p.D161G

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HGSNAT

NM_152419.3:p.D161G

hg38:chr8:43159033 A>G

Associated Papers

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.

Conte F et al.

International Journal of Molecular Sciences, 2023

37239976 (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."