Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.W464*
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KRIT1

NM_194454.3:p.W464*

Associated Papers

Correlation of the venous angioarchitecture of multiple cerebral cavernous malformations with familial or sporadic disease: a susceptibility-weighted imaging study with 7-Tesla MRI.

Dammann P et al.

Journal of Neurosurgery, 2017

CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.

Riant F et al.

Neurogenetics, 2013

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations.

Cavé-Riant F et al.

European Journal of Human Genetics : Ejhg, 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."