Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.E987K
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KIF7

NM_198525.3:p.E987K

Associated Papers

Expansion of Phenotyping and Genotypic Spectra of KIF7 -Related Intellectual Disability: Case Report and Review of Literature.

Wongong R et al.

American Journal of Medical Genetics. Part A, 2026

40935806 (PubMed )
Supplement: supplement_1.docx

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

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

Clinical whole exome sequencing in child neurology practice.

Srivastava S et al.

Annals of Neurology, 2014

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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."