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Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

One of the major questions in human genetics is what percentage of individuals in the general population carry a disease-causing mutation. Based on publicly available information on genotypes from six main world populations, we created a database including data on 276,921 sequence variants, present...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Hanany, Mor, Rivolta, Carlo, Sharon, Dror
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7007541/
https://ncbi.nlm.nih.gov/pubmed/31964843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1913179117
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