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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IFT122

Variant:p.L1076_Y1077insFs

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IFT122

NM_052985.4:p.L1076_Y1077insFs

hg38:chr3:129514475 T>TG

Associated Papers

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

26792575 (PubMed )

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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."