Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.R57_L58delFs
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CCM2

NM_031443.4:p.R57_L58delFs

Associated Papers

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.

Much CD et al.

Frontiers in Neurology, 2019

31824402 (PubMed )
Supplement: Data_Sheet_1.PDF

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

Mondéjar R et al.

Plos One, 2014

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Liquori CL et al.

American Journal of Human Genetics, 2003

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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."