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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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| Publicado no: | Am J Transl Res |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
e-Century Publishing Corporation
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6456527/ https://ncbi.nlm.nih.gov/pubmed/30972196 |
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