Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.R382_H383Splc
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KRIT1

NM_194454.3:p.R382_H383Splc

Associated Papers

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation.

D'Angelo R et al.

Brain Pathology (zurich, Switzerland), 2011

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.

Marini V et al.

American Journal of Medical Genetics. Part A, 2004

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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."