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Routine Diagnostics Confirm Novel Neurodevelopmental Disorders
Routine diagnostics is biased towards genes and variants with satisfactory evidence, but rare disorders with only little confirmation of their pathogenicity might be missed. Many of these genes can, however, be considered relevant, although they may have less evidence because they lack OMIM entries...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778535/ https://www.ncbi.nlm.nih.gov/pubmed/36553572 http://dx.doi.org/10.3390/genes13122305 |