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Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases
The ACMG framework for variant interpretation is well‐established and widely used. Although formal guidelines have been published on the establishment of the gene–disease relationships as well, these are not nearly as widely acknowledged or utilized, and implementation of these guidelines is lagging...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544306/ https://www.ncbi.nlm.nih.gov/pubmed/35266245 http://dx.doi.org/10.1002/humu.24367 |