Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guide...

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Detalles Bibliográficos
Autores principales: Tamana, Stella, Xenophontos, Maria, Minaidou, Anna, Stephanou, Coralea, Harteveld, Cornelis L, Bento, Celeste, Traeger-Synodinos, Joanne, Fylaktou, Irene, Yasin, Norafiza Mohd, Abdul Hamid, Faidatul Syazlin, Esa, Ezalia, Halim-Fikri, Hashim, Zilfalil, Bin Alwi, Kakouri, Andrea C, Kleanthous, Marina, Kountouris, Petros
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Computational and Systems Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9731569/
https://www.ncbi.nlm.nih.gov/pubmed/36453528
http://dx.doi.org/10.7554/eLife.79713

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9731569/
https://www.ncbi.nlm.nih.gov/pubmed/36453528
http://dx.doi.org/10.7554/eLife.79713

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