Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Ambrosini E et al.
Genes, 2023
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.
Gulati A et al.
Kidney360, 2023
28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.
Liang N et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Intrafamilial Variability of ADPKD.
Lanktree MB et al.
Kidney International Reports, 2019
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion.
Watanabe S et al.
Clinical Case Reports, 2019
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.
O'Brien K et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
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