Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

<strong>Purpose</strong> Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing 51 additional gene...

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Dades bibliogràfiques
Autors principals:	Thomson, K, Ormondroyd, E, Harper, A, Dent, T, McGuire, K, Baksi, J, Blair, E, Brennan, P, Buchan, R, Bueser, T, Campbell, C, Carr-White, G, Cook, S, Daniels, M, Deevi, S, Goodship, J, Hayesmoore, J, Henderson, A, Lamb, T, Prasad, S, Rayner-Matthews, P, Robert, L, Sneddon, L, Stark, H, Walsh, R, Ware, J, Farrall, M, Watkins, H, Nihr Bioresource – Rare Diseases Consortium
Format:	Journal article
Idioma:	English
Publicat:	Springer Nature 2018

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

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