Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q387*
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KRIT1

NM_194454.3:p.Q387*

Associated Papers

Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation.

Liu Z et al.

Frontiers in Oncology, 2023

Postzygotic mosaicism in cerebral cavernous malformation.

Rath M et al.

Journal of Medical Genetics, 2020

CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.

Chang CW et al.

Scientific Reports, 2019

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."