Varaico: Literature-Extracted Genetic Variants

Gene:CCM2
Variant:p.M1Fs
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CCM2

NM_031443.4:p.M1Fs

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Transposon clusters as substrates for aberrant splice-site activation.

Alvarez MEV et al.

Rna Biology, 2021

32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.

Stahl S et al.

Human Mutation, 2008

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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."