Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.C329*
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KRIT1

NM_194454.3:p.C329*

Associated Papers

Familial Cerebral Cavernous Malformations: Pathophysiology, Genetics, Biomarkers, and Treatment Perspectives.

Fontes-Dantas FL et al.

Journal of Neurochemistry, 2026

Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.

Gallione CJ et al.

Human Genetics, 2022

Cerebral Cavernous Malformation: From Mechanism to Therapy.

Snellings DA et al.

Circulation Research, 2021

Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.

Melis M et al.

Cerebrovascular Diseases (basel, Switzerland), 2014

Cutaneous venous malformations related to KRIT1 mutation: case report and literature review.

Grippaudo FR et al.

Journal of Molecular Neuroscience : Mn, 2013

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.

Cau M et al.

European Journal of Medical Genetics, 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."