Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.A32delFs
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CCM2

NM_031443.4:p.A32delFs

Associated Papers

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.

Chang CW et al.

Scientific Reports, 2019

Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family.

Du Q et al.

Journal of Molecular Neuroscience : Mn, 2019

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

A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.

Huang WQ et al.

Frontiers in Aging Neuroscience, 2016

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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."