Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.P418_Y419Splc
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KRIT1

NM_194454.3:p.P418_Y419Splc

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

Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.

Li C et al.

Stroke and Vascular Neurology, 2025

A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.

Li C et al.

Neurogenetics, 2023

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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."