Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q455fs
Back to variants list

KRIT1

NM_194454.3:p.Q455fs

Associated Papers

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature.

Liu W et al.

Frontiers in Neurology, 2022

Disseminated Cavernous Malformations Due to KRIT1 Gene Mutation Causing Seizure and Spastic Paraparesis.

Gomathy SB et al.

Annals of Indian Academy of Neurology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."