Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M70V
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SDS

NM_006843.3:p.M70V

Associated Papers

High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.

Hensen EF et al.

Clinical Genetics, 2012

Structure-function analysis of the alpha5 and the alpha13 helices of human glucokinase: description of two novel activating mutations.

Pedelini L et al.

Protein Science : a Publication of the Protein Society, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

Study of the regulatory properties of glucokinase by site-directed mutagenesis: conversion of glucokinase to an enzyme with high affinity for glucose.

Moukil MA et al.

Diabetes, 2000

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Braun S et al.

Anticancer Research, 0

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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."