Varaico: Literature-Extracted Genetic Variants

Gene:IFT122
Variant:p.Y1077fs
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IFT122

NM_052985.4:p.Y1077fs

Associated Papers

A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report.

Yang Q et al.

Experimental and Therapeutic Medicine, 2021

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

Moosa S et al.

American Journal of Medical Genetics. Part A, 2016

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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."