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Keywords: Founder mutations
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Journal Articles
In collection:
Rare Disease Translational Research
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050715.
Published: 26 June 2024
...Dana Marafi ABSTRACT Founder mutations are disease-causing variants that occur frequently in geographically or culturally isolated groups whose shared ancestor(s) carried the pathogenic variant. While some disease alleles may vanish from the genetic pool due to natural selection, variants...