Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.F640delFs
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KRIT1

NM_194454.3:p.F640delFs

Associated Papers

Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.

Chen Y et al.

Frontiers in Neuroscience, 2023

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature.

Liu W et al.

Frontiers in Neurology, 2022

A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation.

Yang C et al.

Clinical Neurology and Neurosurgery, 2018

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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."