Varaico: Literature-Extracted Genetic Variants

Gene:PDCD10
Variant:p.K132Splc
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PDCD10

NM_007217.4:p.K132Splc

Associated Papers

The First Potentially Causal Genetic Variant Documented in a Polish Woman with Multiple Cavernous Malformations of the Brain.

Szczygieł-Pilut E et al.

Genes, 2023

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations.

Rath M et al.

Molecular Genetics & Genomic Medicine, 2017

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

D'Angelo R et al.

Brain Pathology (zurich, Switzerland), 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."