Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance

Abstract Hundreds of LMNA variants have been associated with several distinct disease phenotypes. However, genotype–phenotype relationships remain largely undefined and the impact for most variants remains unknown. We performed a functional analysis for 178 variants across five structural domains us...

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Autores principales: Corey L. Anderson, Emma R. Langer, Timothy C. Routes, Seamus F. McWilliams, Igor Bereslavskyy, Timothy J. Kamp, Lee L. Eckhardt
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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R
Acceso en línea:https://doaj.org/article/cb36d873da8841c288bf1a7f3c726247
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