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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRIT1

Variant:p.C696fs

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KRIT1

NM_194454.3:p.C696fs

hg38:chr7:92201363 ACA>N

Associated Papers

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.

Pilz RA et al.

Neurogenetics, 2025

40874960 (PubMed )

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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."