Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.A73delFs
Back to variants list

KIF7

NM_198525.3:p.A73delFs

Associated Papers

The ciliary kinesin KIF7 controls the development of the cerebral cortex by acting differentially on SHH signaling in dorsal and ventral forebrain.

Pedraza M et al.

Elife, 2025

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

Ibisler A et al.

Molecular Syndromology, 2015

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S et al.

Human Genome Variation, 2015

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S et al.

Human Genome Variation, 2014

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Putoux A et al.

Journal of Medical Genetics, 2012

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Ali BR et al.

Orphanet Journal of Rare Diseases, 2012

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

Dafinger C et al.

The Journal of Clinical Investigation, 2011

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."