Varaico: Literature-Extracted Genetic Variants

Gene:IFT122
Variant:p.S373F
Back to variants list

IFT122

NM_052985.4:p.S373F

Associated Papers

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

Kaukonen M et al.

Human Genetics, 2021

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E et al.

European Journal of Human Genetics : Ejhg, 2021

A Transposon Screen Identifies Loss of Primary Cilia as a Mechanism of Resistance to SMO Inhibitors.

Zhao X et al.

Cancer Discovery, 2017

28923910 (PubMed )
Supplement: 21598290cd170281-sup-180587_2_supp_4253409_2vv5jv.xls › resistant

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Alazami AM et al.

Molecular Genetics & Genomic Medicine, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."