Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.K96K
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CCM2

NM_031443.4:p.K96K

Associated Papers

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

Du Q et al.

Journal of Molecular Neuroscience : Mn, 2019

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

Tonelli A et al.

Clinical Genetics, 2009

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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."