Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q698*
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KRIT1

NM_194454.3:p.Q698*

Associated Papers

Late-onset familial cerebral cavernous malformation without a family history: a case description.

Zhang Z et al.

Quantitative Imaging in Medicine and Surgery, 2025

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

Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations.

Zhang F et al.

Frontiers in Neuroscience, 2020

33071727 (PubMed )
Supplement: Presentation_1.pdf

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

Chang CW et al.

Scientific Reports, 2019

A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study.

Yang C et al.

Journal of Molecular Neuroscience : Mn, 2017

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.

Yang C et al.

Journal of Molecular Neuroscience : Mn, 2017

Familial cerebral cavernous angiomas: clinical and genetic features in a Chinese family with a frame-shift mutation in the CCM1 gene (krit1).

Zhu H et al.

Journal of Molecular Neuroscience : Mn, 2014

A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family.

Zhao Y et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2011

[Identification of a novel inheritable CCM1 gene mutation of 671del AT in a Chinese family with cerebral cavernous malformation].

Mao Y et al.

Zhonghua Yi Xue Za Zhi, 2003

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.

Chen DH et al.

Journal of the Neurological Sciences, 2002

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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."