Varaico: Literature-Extracted Genetic Variants

Gene:TULP3
Variant:p.L182delFs
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TULP3

NM_003324.5:p.L182delFs

Associated Papers

Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant.

Robert T et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023

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

Devane J et al.

American Journal of Human 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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