Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.W330Splc
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KRIT1

NM_194454.3:p.W330Splc

Associated Papers

Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness.

Fontes-Dantas FL et al.

World Neurosurgery, 2020

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance.

Scimone C et al.

Frontiers in Neurology, 2018

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.

Rinaldi C et al.

Journal of the Neurological Sciences, 2017

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

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.

Scimone C et al.

Journal of Molecular Neuroscience : Mn, 2017

Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

Scimone C et al.

Journal of Molecular Neuroscience : Mn, 2015

Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.

D'Angelo R et al.

Biomed Research International, 2013

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

Gaetzner S et al.

Neurosurgical Review, 2007

Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients.

Marini V et al.

American Journal of Medical Genetics. Part A, 2004

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