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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders

Autosomal recessive (AR) disorders pose a significant burden for public health. However, despite their clinical importance, epidemiology and molecular genetics of many AR diseases remain poorly characterized. Here, we analyzed the genetic variability of 508 genes associated with AR disorders based o...

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Podrobná bibliografie
Vydáno v:NPJ Genom Med
Hlavní autoři: Xiao, Qingyang, Lauschke, Volker M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172936/
https://ncbi.nlm.nih.gov/pubmed/34078906
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-021-00203-x
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