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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |