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
35397207 (PubMed )
Supplement: mmc1.pdf
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