Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases

Although standards and guidelines for the interpretation of variants identified in genes that cause Mendelian disorders have been developed, this is not the case for more complex genetic models including variant combinations in multiple genes. During a large curation process conducted on 318 researc...

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Detalles Bibliográficos
Autores principales: Papadimitriou, Sofia, Gravel, Barbara, Nachtegael, Charlotte, De Baere, Elfride, Loeys, Bart, Vikkula, Miikka, Smits, Guillaume, Lenaerts, Tom
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791921/
https://www.ncbi.nlm.nih.gov/pubmed/36578772
http://dx.doi.org/10.1016/j.xhgg.2022.100165

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9791921/
https://www.ncbi.nlm.nih.gov/pubmed/36578772
http://dx.doi.org/10.1016/j.xhgg.2022.100165

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