Varaico: Literature-Extracted Genetic Variants

Gene:CUL7
Variant:p.R992P
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CUL7

NM_014780.5:p.R992P

Associated Papers

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Jiang Y et al.

Molecular Cytogenetics, 2024

Case Report: A Novel Homozygous Mutation in MYF5 Due to Paternal Uniparental Isodisomy of Chromosome 12 in a Case of External Ophthalmoplegia With Rib and Vertebral Anomalies.

Li Q et al.

Frontiers in Genetics, 2021

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.

Sasaki K et al.

Clinical Genetics, 2011

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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."