Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

Variants of uncertain significance (VUS) are commonly found following genomic sequencing, particularly in ethnically diverse populations that are underrepresented in large population databases. Functional characterization of VUS may assist in variant reclassification, however these studies are not r...

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Detalles Bibliográficos
Autores principales: Akesson, Lauren S., Rius, Rocio, Brown, Natasha J., Rosenbaum, Jeremy, Donoghue, Sarah, Stormon, Michael, Chai, Charmaine, Bordador, Esmeralda, Guo, Yiran, Hakonarson, Hakon, Compton, Alison G., Thorburn, David R., Amarasekera, Sumudu, Marum, Justine, Monaco, Alisha, Lee, Crystle, Chong, Belinda, Lunke, Sebastian, Stark, Zornitza, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995841/
https://www.ncbi.nlm.nih.gov/pubmed/35433172
http://dx.doi.org/10.1002/jmd2.12280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8995841/
https://www.ncbi.nlm.nih.gov/pubmed/35433172
http://dx.doi.org/10.1002/jmd2.12280

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