Varaico: Literature-Extracted Genetic Variants

Gene:KRIT1
Variant:p.Q201fs
Back to variants list

KRIT1

NM_194454.3:p.Q201fs

Associated Papers

Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene.

Fusco C et al.

Human Mutation, 2020

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S et al.

Molecular Genetics & Genomic Medicine, 2014

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."