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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Enregistré dans:
Détails bibliographiques
Publié dans:Sci Adv
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: American Association for the Advancement of Science 2019
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6703870/
https://ncbi.nlm.nih.gov/pubmed/31457090
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciadv.aaw7195
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