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Specification of ACMG AMP Guidelines for Variant Interpretation in Familial Hypercholesterolemia

2019-05Conference object Restricted access
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dc.contributor.authorChora, Joana R.
dc.contributor.authorLacocca, Michael A.
dc.contributor.authorCarrié, Alain
dc.contributor.authorLeigh, Sarah E.
dc.contributor.authorTichý, Lukáš
dc.contributor.authorKurtz, C. Lisa
dc.contributor.authorFreiberger, Tomas
dc.contributor.authorSijbrands, Eric J.
dc.contributor.authorHegele, Robert A.
dc.contributor.authorKnowles, Joshua W.
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2019-07-10T10:28:00Z
dc.date.available2019-07-10T10:28:00Z
dc.date.issued2019-05
dc.description.abstractBackground and Aims: the general ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are a great asset in determining variants’ pathogenicity, but need to be adapted to each specific gene and disease.pt_PT
dc.description.sponsorshipWith thanks to the EAS for support in the form of a Young Investigator Fellowship. The contents of this poster are presented on behalf of the ClinGen FH Variant Curation Committee. JR Chora is funded by SFRH/BD/108503/2015. ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI) (grants U41HG006834, U41HG009649, U41HG009650). ClinGen also receives support for content curation from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (grants U24HD093483, U24HD093486, U24HD093487). The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6428
dc.language.isoengpt_PT
dc.subjectFamilial Hypercholesterolemiapt_PT
dc.subjectGuidelinespt_PT
dc.subjectDoenças Cardio e Cérebro-vasculares
dc.titleSpecification of ACMG AMP Guidelines for Variant Interpretation in Familial Hypercholesterolemiapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMaastricht, The Netherlandspt_PT
oaire.citation.title87th EAS Congress, European Atherosclerosis Society, 26-29 May 2019pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

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