Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.H1115Q
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KIF7

NM_198525.3:p.H1115Q

Associated Papers

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

Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.

Terhune EA et al.

Human Mutation, 2021

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Bryant L et al.

Clinical Ophthalmology (auckland, N.z.), 2018

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

Ibisler A et al.

Molecular Syndromology, 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."