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Intronic variants in inborn errors of metabolism: Beyond the exome

Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions to this assertion. With the increasing availabilit...

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Detalles Bibliográficos
Autores principales:	Hertzog, Ashley, Selvanathan, Arthavan, Farnsworth, Elizabeth, Tchan, Michel, Adams, Louisa, Lewis, Katherine, Tolun, Adviye Ayper, Bennetts, Bruce, Ho, Gladys, Bhattacharya, Kaustuv
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763607/ https://www.ncbi.nlm.nih.gov/pubmed/36561316 http://dx.doi.org/10.3389/fgene.2022.1031495

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