CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rareCFTRvariants

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Describing structural changes by extending HGVS sequence variation nomenclature2011 · 62 citations
2. 2A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): A founder mutation in the Palestinian Arabs1999 · 50 citations
3. 3Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling2007 · 77 citations
4. 4CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries2010 · 11 citations
5. 5Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements2007 · 14 citations