Varaico: Literature-Extracted Genetic Variants

Gene:SHBG
Variant:p.G147G
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SHBG

NM_001040.5:p.G147G

Associated Papers

Three-dimensional model of the SHBG-like region of anticoagulant protein S: new structure-function insights.

Villoutreix BO et al.

Proteins, 2001

Protein S secretion differences of missense mutants account for phenotypic heterogeneity.

Espinosa-Parrilla Y et al.

Blood, 2000

Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.

Espinosa-Parrilla Y et al.

Human Mutation, 2000

Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.

Espinosa-Parrilla Y et al.

Human Mutation, 1999

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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."