Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.K282Splc
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KRIT1

NM_194454.3:p.K282Splc

Associated Papers

Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.

Yang C et al.

Journal of Molecular Neuroscience : Mn, 2017

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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."