Varaico: Literature-Extracted Genetic Variants

Gene:PDCD10
Variant:p.E54*
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PDCD10

NM_007217.4:p.E54*

Associated Papers

High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteins.

Skowronek D et al.

Angiogenesis, 2025

PDCD10 gene mutations in multiple cerebral cavernous malformations.

Cigoli MS et al.

Plos One, 2014

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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."