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History of the methodology of disease gene identification

The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to t...

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Detalles Bibliográficos
Autor principal: Antonarakis, Stylianos E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8596769/
https://www.ncbi.nlm.nih.gov/pubmed/34159713
http://dx.doi.org/10.1002/ajmg.a.62400