Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics. Articles cover the molecular basis of human disease, human cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications.
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counseling and newborn screening
Background: Cystic fibrosis (CF) is caused by compound heterozygosity or homozygosity of CF transmembrane conductance regulator gene (CFTR) mutations. Phenotypic variability...
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