Associated Papers
Bicodon bias can determine the role of synonymous SNPs in human diseases.
McCarthy C et al.
Bmc Genomics, 2017
28288557 (PubMed )
Supplement: 12864_2017_3609_MOESM2_ESM.pdf
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R et al.
Cellular & Molecular Biology Letters, 2016
28536625 (PubMed )
Supplement: 11658_2016_25_MOESM3_ESM.xlsx › Sheet2
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.
Giuliani R et al.
Asian Journal of Andrology, 2010
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.
Faa' V et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Atypical cystic fibrosis and CFTR-related diseases.
Paranjape SM et al.
Clinical Reviews in Allergy & Immunology, 2008
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
Groman JD et al.
The New England Journal of Medicine, 2002
Select a paper to view details