Varaico: Literature-Extracted Genetic Variants

Gene:TULP3
Variant:p.C204W
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TULP3

NM_003324.5:p.C204W

Associated Papers

Biallelic pathogenic TULP3 variants presenting as neonatal cholestasis, liver fibrosis and neurological manifestations.

Li JQ et al.

Journal of Medical Genetics, 2025

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Devane J et al.

American Journal of Human Genetics, 2022

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.

Jafari Khamirani H et al.

Frontiers in Genetics, 2022

Unearthing TULP3 Mutation as a Rare Cause of Cryptogenic Cirrhosis: A Case Report and Review of the Literature.

Shastri A et al.

Journal of Clinical and Experimental Hepatology, 0

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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."