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Improving the in silico assessment of pathogenicity for compensated variants

Understanding the functional sequelae of amino-acid replacements is of fundamental importance in medical genetics. Perhaps, the most intuitive way to assess the potential pathogenicity of a given human missense variant is by measuring the degree of evolutionary conservation of the substituted amino-...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Azevedo, Luisa, Mort, Matthew, Costa, Antonio C, Silva, Raquel M, Quelhas, Dulce, Amorim, Antonio, Cooper, David N
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5159764/
https://ncbi.nlm.nih.gov/pubmed/27703146
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.129
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