Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.S168delFs
Back to variants list

CCM2

NM_031443.4:p.S168delFs

Associated Papers

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.

Li C et al.

Stroke and Vascular Neurology, 2025

38749536 (PubMed )
Supplement: svn-10-1-s001.pdf

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

Du Q et al.

Journal of Molecular Neuroscience : Mn, 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

Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?

D'Angelo R et al.

Gene, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."