Article
A putative human infertility allele of the meiotic recombinase DMC1 does not affect fertility in mice.
Human molecular genetics - 15 Nov 2018
Tran Tina N, Schimenti John C
Abstract excerpt
Whole-exome or whole-genome sequencing is becoming routine in clinical situations for identifying mutations underlying presumed genetic causes of disease including infertility. While this is a powerful approach for implicating polymorphisms or de novo mutations in genes plausibly related to the phenotype, a greater challenge is to definitively prove causality. This is a crucial requisite for treatment, especially...
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