Varaico: Literature-Extracted Genetic Variants

Gene:KCTD7
Variant:p.F232delFs
Back to variants list

KCTD7

NM_153033.5:p.F232delFs

Associated Papers

KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Yoganathan S et al.

Epilepsia, 2024

Lethal variants in humans: lessons learned from a large molecular autopsy cohort.

Shamseldin HE et al.

Genome Medicine, 2021

34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Moen MN et al.

Brain : a Journal of Neurology, 2016

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."