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Assessing risk for Mendelian disorders in a Bronx population

BACKGROUND: To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations. METHODS: Variants f...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: diSibio, Guy, Upadhyay, Kinnari, Meyer, Philip, Oddoux, Carole, Ostrer, Harry
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5606885/
https://ncbi.nlm.nih.gov/pubmed/28944235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.307
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