Cargando…

A functional assay to classify ZBTB24 missense variants of unknown significance

Increasing use of next‐generation sequencing technologies in clinical diagnostics allows large‐scale discovery of genetic variants, but also results in frequent identification of variants of unknown significance (VUSs). Their classification into disease‐causing and neutral variants is often hampered...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Haoyu, Vonk, Kelly K. D., van der Maarel, Silvère M., Santen, Gijs W.E., Daxinger, Lucia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771626/
https://www.ncbi.nlm.nih.gov/pubmed/31066130
http://dx.doi.org/10.1002/humu.23786

Ejemplares similares