Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.N119_A123del0
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CCM2

NM_031443.4:p.N119_A123del0

Associated Papers

Cerebral vascular malformations: pathogenesis and therapy.

He Q et al.

Medcomm, 2024

Postzygotic mosaicism in cerebral cavernous malformation.

Rath M et al.

Journal of Medical Genetics, 2020

31446422 (PubMed )
Supplement: jmedgenet-2019-106182supp001.pdf

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

McDonald DA et al.

Human Molecular Genetics, 2014

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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."