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Classification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (Part 2) - How to classify LDLR variants

2025-09-12Palestra Acesso restrito
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datacite.subject.fosCiências Médicas
dc.contributor.authorChora, Joana Rita
dc.date.accessioned2026-03-09T12:37:39Z
dc.date.available2026-03-09T12:37:39Z
dc.date.issued2025-09-12
dc.description.abstractLecture on the Classification of Genetic Variants for Clinical Use – The Case of Familial Hypercholesterolemia (Part 2): How to Classify LDLR Variants, presented within the framework of Genetics and Genomics in Clinical Practice: Advanced Training. This advanced course is aimed at healthcare professionals seeking to understand, interpret, and apply genomic information in clinical practice in a critical, ethical, and effective manner, particularly physicians and professionals with a background in life sciences.eng
dc.description.sponsorshipCaixa Research - Fundacíon "la Caixa" and PerMed FH.
dc.identifier.urihttp://hdl.handle.net/10400.18/11228
dc.language.isoeng
dc.peerreviewedn/a
dc.rights.uriN/A
dc.subjectFamilial Hypercholesterolemia
dc.subjectVariant Classification
dc.subjectGenetic Diagnosis
dc.titleClassification of genetic variants for clinical use – the case of Familial Hypercholesterolemia (Part 2) - How to classify LDLR variantseng
dc.typelecture
dspace.entity.typePublication
oaire.citation.title6th ed. Post-graduate course Genetics and Genomics for Clinicians, NOVA Medical School, Lisboa, 12 setembro 2025
oaire.versionhttp://purl.org/coar/version/c_b1a7d7d4d402bcce

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