- Digenic or oligogenic mutations in presumed monogenic disorders: A review
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Ben-Mahmoud A, Gupta V, Kim CH, Layman LC, Kim HG
- KMID: 2544153
- J Genet Med.
- 2023 Jun;20(1):15-24.
- doi: 10.5734/JGM.2023.20.1.15
Monogenic disorders are traditionally attributed to the presence of mutations in a single gene. However, recent advancements in genomics have revealed instances where the phenotypic expression of apparently monogenic disorders... -
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