Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.L78delFs
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KIF7

NM_198525.3:p.L78delFs

Associated Papers

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

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."