Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.L213P
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KRIT1

NM_194454.3:p.L213P

Associated Papers

Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.

Kim S et al.

Annals of Clinical and Translational Neurology, 2023

Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.

Fisher OS et al.

The Journal of Biological Chemistry, 2015

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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."