Varaico: Literature-Extracted Genetic Variants

Gene:HGFAC
Variant:p.R644Q
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HGFAC

NM_001528.4:p.R644Q

Associated Papers

Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension.

van Duijvenboden S et al.

American Journal of Human Genetics, 2023

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S1

From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.

Tise CG et al.

G3 (bethesda, Md.), 2016

27412988 (PubMed )
Supplement: supp_g3.116.032979_TableS4.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."