Varaico: Literature-Extracted Genetic Variants

Gene:PDCD10
Variant:p.Q129*
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PDCD10

NM_007217.4:p.Q129*

Associated Papers

Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations.

Wang J et al.

Clinical and Translational Medicine, 2024

38450890 (PubMed )
Supplement: CTM2-14-e1610-s001.xlsx › Table_S2

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

Riant F et al.

Molecular Syndromology, 2013

Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.

Bergametti F et al.

American Journal of Human Genetics, 2005

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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."