Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.N1060S
Back to variants list

KIF7

NM_198525.3:p.N1060S

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

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes.

Niida Y et al.

International Journal of Molecular Sciences, 2021

Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.

Blasius TL et al.

Journal of Cell Science, 2021

Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.

Tunovic S et al.

American Journal of Medical Genetics. Part A, 2015

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

Ibisler A et al.

Molecular Syndromology, 2015

The acrocallosal syndrome in a neonate with further widening of phenotypic expression.

Singhal R et al.

Iranian Journal of Child Neurology, 2014

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

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."