Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q643*
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KRIT1

NM_194454.3:p.Q643*

Associated Papers

Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1-related disease.

Moller-Hansen A et al.

American Journal of Medical Genetics. Part A, 2022

Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation.

Marto JP et al.

Case Reports in Neurology, 0

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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."