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Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene
Identifying a disease gene and determining its causality in patients can be challenging. Here, we present an approach to predicting the pathogenicity of deletions and missense variants for an autosomal dominant gene. We provide online resources for identifying patients and determining constraint met...
| 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/PMC8819039/ https://www.ncbi.nlm.nih.gov/pubmed/35146449 http://dx.doi.org/10.1016/j.xpro.2022.101150 |