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Genetic modifiers in rare disorders: the case of fragile X syndrome

Methods employed in genome-wide association studies are not feasible ways to explore genotype–phenotype associations in rare disorders due to limited statistical power. An alternative approach is to examine relationships among specific single nucleotide polymorphisms (SNPs), selected a priori, and b...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Crawford, Hayley, Scerif, Gaia, Wilde, Lucy, Beggs, Andrew, Stockton, Joanne, Sandhu, Pria, Shelley, Lauren, Oliver, Chris, McCleery, Joseph
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852869/
https://ncbi.nlm.nih.gov/pubmed/32862204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00711-x
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