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...
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
-
Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome
por: Helfricht, Angela, et al.
Publicado: (2020) -
A missense mutation in zbtb17 blocks the earliest steps of T cell differentiation in zebrafish
por: Lawir, Divine-Fondzenyuy, et al.
Publicado: (2017) -
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease
por: Heng, Julian I.‐T., et al.
Publicado: (2022) -
ZBTB1 is a determinant of lymphoid development
por: Siggs, Owen M., et al.
Publicado: (2012) -
Computational and experimental methods for classifying variants of unknown clinical significance
por: Spielmann, Malte, et al.
Publicado: (2022)