Varaico: Literature-Extracted Genetic Variants

Gene:ELOB
Variant:p.S111N
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ELOB

NM_007108.4:p.S111N

Associated Papers

Effects of point mutations in pVHL on the binding of HIF-1α.

Domene C et al.

Proteins, 2012

Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

Forman JR et al.

Proteins, 2009

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

Ruiz-Llorente S et al.

Human Mutation, 2004

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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."