Associated Papers
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ et al.
European Journal of Human Genetics : Ejhg, 2024
38778082 (PubMed )
Supplement: 41431_2024_1629_MOESM2_ESM.xlsx › F-III-1
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H et al.
Nature Genetics, 2003
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