Digenic or oligogenic mutations in presumed monogenic disorders: A review

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 cannot be fully explained by mutations in a single gene alone. This revie...

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Veröffentlicht in:Journal of genetic medicine 2023-06, Vol.20 (1), p.15-24
Hauptverfasser: Afif Ben-Mahmoud, Vijay Gupta, Cheol-Hee Kim, Lawrence C Layman, Hyung-Goo Kim
Format: Artikel
Sprache:kor
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