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Article

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

Annals of human genetics - 1 May 2016

Erzurumluoglu A Mesut, Shihab Hashem A, Rodriguez Santiago, Gaunt Tom R, Day Ian N M

Abstract excerpt

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 useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no...

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Identifiers

PMID: 27000383
DOI: 10.1111/ahg.12150
PMCID: PMC4949565

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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