Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.K654delFs
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KRIT1

NM_194454.3:p.K654delFs

Associated Papers

Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.

Kim S et al.

Annals of Clinical and Translational Neurology, 2023

Single-cell sequencing reveals that endothelial cells, EndMT cells and mural cells contribute to the pathogenesis of cavernous malformations.

Ren J et al.

Experimental & Molecular Medicine, 2023

36914857 (PubMed )
Supplement: 12276_2023_962_MOESM1_ESM.pdf

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations.

Much CD et al.

Frontiers in Neurology, 2019

31824402 (PubMed )
Supplement: Data_Sheet_1.PDF

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S et al.

Molecular Genetics & Genomic Medicine, 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."