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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRIT1

Variant:p.V314_N315delFs

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KRIT1

NM_194454.3:p.V314_N315delFs

hg38:chr7:92234494 TTGAC>T

Associated Papers

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.

Yang IY et al.

Korean Journal of Pediatrics, 2016

27462358 (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."