Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.N671fs
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KRIT1

NM_194454.3:p.N671fs

Associated Papers

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells.

Much CD et al.

Frontiers in Molecular Biosciences, 2021

34307446 (PubMed )
Supplement: DataSheet1.PDF

Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitro.

Spiegler S et al.

Molecular Genetics & Genomic Medicine, 2019

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
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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."