Varaico: Literature-Extracted Genetic Variants

Gene:PDCD10
Variant:p.E140*
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PDCD10

NM_007217.4:p.E140*

Associated Papers

Beware of missed diagnosis in patients with multiple genetic diseases: a case report.

Guo D et al.

Bmc Pediatrics, 2022

Surveying genetic variants and molecular phylogeny of cerebral cavernous malformation gene, CCM3/PDCD10.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2014

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F et al.

Neurogenetics, 2013

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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."