Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.E2delins
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CCM2

NM_031443.4:p.E2delins

Associated Papers

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Gallione CJ et al.

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