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Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum

While whole‐genome and exome sequencing have transformed our collective understanding of genetics' role in disease pathogenesis, there are certain conditions and populations for whom DNA‐level data fails to identify the underlying genetic etiology. Specifically, patients of non‐White race and n...

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Detalles Bibliográficos
Autores principales:	Postel, Mackenzie D., Culver, Julie O., Ricker, Charité, Craig, David W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Reviews
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9560997/ https://www.ncbi.nlm.nih.gov/pubmed/35510381 http://dx.doi.org/10.1002/humu.24394

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