Varaico: Literature-Extracted Genetic Variants

Gene:IFT81
Variant:p.L645*
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IFT81

NM_014055.4:p.L645*

Associated Papers

Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects.

Tasaki K et al.

Human Molecular Genetics, 2023

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Ashraf T et al.

American Journal of Medical Genetics. Part A, 2020

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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."