Varaico: Literature-Extracted Genetic Variants

Gene:KIF7
Variant:p.A966fs
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KIF7

NM_198525.3:p.A966fs

Associated Papers

Characterizing the morbid genome of ciliopathies.

Shaheen R et al.

Genome Biology, 2016

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

The many faces of KIF7.

Barakeh D et al.

Human Genome Variation, 2015

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S et al.

Human Genome Variation, 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."