Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample

The impact of the FMR1 premutation on human health is the subject of considerable controversy. A fundamental unanswered question is whether carrying the premutation allele is directly correlated with clinical phenotypes. A challenging problem in past genotype-phenotype studies of the FMR1 premutatio...

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Detalles Bibliográficos
Autores principales: Movaghar, Arezoo, Page, David, Brilliant, Murray, Baker, Mei Wang, Greenberg, Jan, Hong, Jinkuk, DaWalt, Leann Smith, Saha, Krishanu, Kuusisto, Finn, Stewart, Ron, Berry-Kravis, Elizabeth, Mailick, Marsha R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6703870/
https://www.ncbi.nlm.nih.gov/pubmed/31457090
http://dx.doi.org/10.1126/sciadv.aaw7195

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