Varaico: Literature-Extracted Genetic Variants

Gene:KIF14
Variant:p.G459R
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KIF14

NM_014875.3:p.G459R

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.

Kalantari S et al.

Journal of Medical Genetics, 2020

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Reilly ML et al.

Human Molecular Genetics, 2019

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Makrythanasis P et al.

European Journal of Human Genetics : Ejhg, 2018

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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."