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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Some individuals with a particular disease-causing mutation or genotype fail to express most if not all features of the disease in question, a phenomenon that is known as ‘reduced (or incomplete) penetrance’. Reduced penetrance is not uncommon; indeed, there are many known examples of ‘disease-causi...

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שמור ב:
מידע ביבליוגרפי
Main Authors: Cooper, David N., Krawczak, Michael, Polychronakos, Constantin, Tyler-Smith, Chris, Kehrer-Sawatzki, Hildegard
פורמט: Artigo
שפה:Inglês
יצא לאור: Springer Berlin Heidelberg 2013
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3778950/
https://ncbi.nlm.nih.gov/pubmed/23820649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-013-1331-2
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