Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q239*
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KRIT1

NM_194454.3:p.Q239*

Associated Papers

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient.

Chen DY et al.

Bmj Case Reports, 2018

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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."