Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel

Diagnostic laboratories gather phenotypic data through requisition forms, but there is no consensus as to which data are essential for variant interpretation. The ClinGen Cardiomyopathy Variant Curation Expert Panel defined a phenotypic data set for hypertrophic cardiomyopathy (HCM) variant interpre...

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Detalles Bibliográficos
Autores principales: Morales, Ana, Ing, Alexander, Antolik, Christian, Austin-Tse, Christina, Baudhuin, Linnea M., Bronicki, Lucas, Cirino, Allison, Hawley, Megan H., Fietz, Michael, Garcia, John, Ho, Carolyn, Ingles, Jodie, Jarinova, Olga, Johnston, Tami, Kelly, Melissa A., Kurtz, C. Lisa, Lebo, Matt, Macaya, Daniela, Mahanta, Lisa, Maleszewski, Joseph, Manrai, Arjun K., Murray, Mitzi, Richard, Gabriele, Semsarian, Chris, Thomson, Kate L., Winder, Tom, Ware, James S., Hershberger, Ray E., Funke, Birgit H., Vatta, Matteo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Investigative Pathology 2021
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188618/
https://www.ncbi.nlm.nih.gov/pubmed/33631351
http://dx.doi.org/10.1016/j.jmoldx.2021.01.014

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