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Article

[Our hidden genetic defects].

Medecine sciences : M/S - 1 Jan 2000

Jordan Bertrand

Abstract excerpt

A systematic study analysing the exomes of several thousand individuals indicates that each of them carries at least one strongly deleterious mutation that is innocuous in a heterozygote but results in a severe phenotype in the homozygous state. Most of these mutations are very rare, while a few are present in 1 or 2% of the population. The frequency of at-risk couples is approximately 1.5%, but increases...

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PMID: 34180829
DOI: 10.1051/medsci/2021079

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