Varaico: Literature-Extracted Genetic Variants

Gene:IFT122
Variant:p.G623V
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IFT122

NM_052985.4:p.G623V

Associated Papers

A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.

Kaukonen M et al.

Human Genetics, 2021

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Alazami AM et al.

Molecular Genetics & Genomic Medicine, 2014

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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."