Varaico: Literature-Extracted Genetic Variants

Gene:IFT56
Variant:p.S335_R336Splc
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IFT56

NM_024926.4:p.S335_R336Splc

Associated Papers

Biliary, Renal, Neurological, and Skeletal syndrome in a Chinese boy.

Yang W et al.

Pediatric Nephrology (berlin, Germany), 2025

A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip-palate cleft: A case report and expansion of the phenotype.

Papingi D et al.

American Journal of Medical Genetics. Part A, 2024

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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."