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
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.
Gingras MC et al.
Life Science Alliance, 2021
34301805 (PubMed )
Supplement: LSA-2020-00941_TableS2.xlsx › Table_S2
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM13_ESM.xlsx › Sup._T10_-_LOF_GL_Exomes
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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