Varaico: Literature-Extracted Genetic Variants

Gene:PDCD10
Variant:p.L203*
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PDCD10

NM_007217.4:p.L203*

Associated Papers

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.

Shenkar R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.

Schröder W et al.

Neurosurgical Review, 2014

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

Riant F et al.

Molecular Syndromology, 2013

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis.

Akers AL et al.

Human Molecular Genetics, 2009

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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."