Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.K68_Y69Splc
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CCM2

NM_031443.4:p.K68_Y69Splc

Associated Papers

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.

Fusco C et al.

Human Mutation, 2019

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.

Nardella G et al.

Human Mutation, 2018

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.

Dammann P et al.

Journal of Neurosurgery, 2017

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