Article
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders.
Human genetics - 1 Jul 2024
Andersen Rebecca E, Alkuraya Ibrahim F, Ajeesh Abna, Sakamoto Tyler, Mena Elijah L, Amr Sami S, Romi Hila, Kenna Margaret A, Robson Caroline D, Wilch Ellen S, Nalbandian Katarena, Piña-Aguilar Raul, Walsh Christopher A, Morton Cynthia C
Abstract excerpt
In recent years, there has been increased focus on exploring the role the non-protein-coding genome plays in Mendelian disorders. One class of particular interest is long non-coding RNAs (lncRNAs), which has recently been implicated in the regulation of diverse molecular processes. However, because lncRNAs do not encode protein, there is uncertainty regarding what constitutes a pathogenic lncRNA variant, and thus...
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