Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Y635*
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KRIT1

NM_194454.3:p.Y635*

Associated Papers

A rare cause of persistent hiccups: familial cerebral cavernous malformations associated with mutation of the KRIT1 gene.

Altıntaş M et al.

Acta Neurologica Belgica, 2025

Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

Mondéjar R et al.

Plos One, 2014

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

[FAMILIAL CRANIOFACIAL DYSOSTOSIS AND ASSOCIATED NEUROLOGIC MALFORMATIONS].

SCHURMANS P et al.

Acta Neurologica Et Psychiatrica Belgica, 1963

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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."