Judit Sanz

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OBJECTIVE Medical applications have special features (interpretation of results in medical metrics, experiment reproducibility and dealing with complex data) that require the development of particular tools. The eXiT*CBR framework is proposed to support the development of and experimentation with new case-based reasoning (CBR) systems for medical diagnosis.(More)
The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families. To understand their ancestral history and clinical effect, we performed functional assays and a penetrance analysis and studied their genetic and geographic origins. Detailed family histories were taken from 29 carrier(More)
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