Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.A966delFs
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KIF7

NM_198525.3:p.A966delFs

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

Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.

Pauta M et al.

Fetal Diagnosis and Therapy, 2021

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

27894351 (PubMed )
Supplement: 13059_2016_1099_MOESM2_ESM.xlsx › Sheet1

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 many faces of KIF7.

Barakeh D et al.

Human Genome Variation, 2015

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Putoux A et al.

Nature Genetics, 2011

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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."