Associated Papers
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq.
Koster R et al.
Npj Genomic Medicine, 2021
34782607 (PubMed )
Supplement: 41525_2021_258_MOESM3_ESM.xlsx › detected_spli_events
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population.
Zhang J et al.
Scientific Reports, 2015
26056819 (PubMed )
Supplement: srep11291-s1.pdf
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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