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A study of the pathogenicity of variants in familial heart disease. The value of cosegregation

With the development of deep sequencing, a significant proportion of mutations already listed in studies have inconclusive pathogenicity. We aim to establish the proportion of cases in which familial studies are possible and cosegregation analysis is informative. We also compare cosegregation analys...

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Detalhes bibliográficos
Publicado no:Am J Transl Res
Main Authors: García-Molina, Esperanza, Sabater-Molina, María, López-Cuenca, David, Olmo, María C, Pérez, Inmaculada, Muñoz Esparza, Carmen, Gimeno Blanes, Juan R
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6456527/
https://ncbi.nlm.nih.gov/pubmed/30972196
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