Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.G132V
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SPOP

NM_001007228.2:p.G132V

Associated Papers

Comprehensive computational analysis of deleterious nsSNPs in PTEN gene for structural and functional insights.

Sharma D et al.

Molecular Biology Research Communications, 2025

Nabais Sa-de Vries syndrome in a Chinese infant associated with a novel SPOP mutation: A clinical study and genetic report.

Hu W et al.

Molecular Genetics & Genomic Medicine, 2022

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders.

Nabais Sá MJ et al.

American Journal of Human Genetics, 2020

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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."