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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very us...

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Опубликовано в: :Ann Hum Genet
Главные авторы: Erzurumluoglu, A. Mesut, Shihab, Hashem A., Rodriguez, Santiago, Gaunt, Tom R., Day, Ian N.M.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2016
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4949565/
https://ncbi.nlm.nih.gov/pubmed/27000383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ahg.12150
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