Improving the clinical interpretation of missense variants in X linked genes using structural analysis

BACKGROUND: Improving the clinical interpretation of missense variants can increase the diagnostic yield of genomic testing and lead to personalised management strategies. Currently, due to the imprecision of bioinformatic tools that aim to predict variant pathogenicity, their role in clinical guide...

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Detalles Bibliográficos
Autores principales: Sallah, Shalaw Rassul, Ellingford, Jamie M, Sergouniotis, Panagiotis I, Ramsden, Simon C, Lench, Nicholas, Lovell, Simon C, Black, Graeme C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Diagnostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961765/
https://www.ncbi.nlm.nih.gov/pubmed/33766936
http://dx.doi.org/10.1136/jmedgenet-2020-107404

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8961765/
https://www.ncbi.nlm.nih.gov/pubmed/33766936
http://dx.doi.org/10.1136/jmedgenet-2020-107404

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