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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRIT1

Variant:p.P418_Y419Splc

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KRIT1

NM_194454.3:p.P418_Y419Splc

hg38:chr7:92225706 A>T

Associated Papers

Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.

D'Angelo R et al.

Biomed Research International, 2013

24058906 (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."