Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.L759P
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KIF7

NM_198525.3:p.L759P

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

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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 PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.

Liu YC et al.

Science Signaling, 2014

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."