martes, 16 de abril de 2024
Lethal phenotypes in Mendelian disorders
https://www.sciencedirect.com/science/article/pii/S1098360024000741
From the abstract: "We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death. We characterised the genes across these lethality categories, examined the evidence on viability from mouse models and explored how this information could be used for novel gene discovery. "
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