Associated Papers
A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.
Lin T et al.
Frontiers in Genetics, 2025
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Kang E et al.
Journal of Human Genetics, 2020
Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
Hoefele J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2011
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