A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diag...

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Detalles Bibliográficos
Autores principales: Tcheandjieu, Catherine, Aguirre, Matthew, Gustafsson, Stefan, Saha, Priyanka, Potiny, Praneetha, Haendel, Melissa, Ingelsson, Erik, Rivas, Manuel A., Priest, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7735621/
https://www.ncbi.nlm.nih.gov/pubmed/33226994
http://dx.doi.org/10.1371/journal.pgen.1008802

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