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African schizophrenia genetic variants
Science, 2020Human Genetics The genetics of schizophrenia have predominately been studied in populations of European and Asian descent. However, studies in Africans, who host the greatest degree of human genetic diversity, have lagged. Examining the exomes of more than 1800 Xhosa individuals from South Africa, about half of which have been diagnosed with ...
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Genetic Variant Boosts Fertility
JAMA, 2005RESEARCHERS HAVE OBSERVED what appears to be a clear example of natural selection in a human population with their discovery that inversion of a large stretch of DNA is linked to increased reproductive success (Stefansson et al. Nat Genet. 2005;37:129-137).
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Genetic variants in pectus excavatum
Journal of Pediatric Surgery, 2023Juan M, Farina +4 more
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Classification of Genetic Variants
2018Widespread resequencing for research and diagnostic purposes has disclosed a huge amount of genetic variability in the human genome, including the genes associated with inherited predisposition to colorectal cancer. The functional and clinical consequences of the gene variants identified are often difficult to predict.
Maurizio Genuardi +3 more
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Genetic Variants of Erythrocytes
1996This chapter discusses some genetic variants of the human red cell with clear-cut relationships to solute transport. These include band 7.2b deficiency, congenital increase in red cell pump sites, S and C hemoglobinopathies, congenital absence of carrier-mediated urea transport, and two mutations of the anion exchanger.
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