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...

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Detalles Bibliográficos
Autores principales: Jauss, Robin-Tobias, Schließke, Sophia, Abou Jamra, Rami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9778535/
https://www.ncbi.nlm.nih.gov/pubmed/36553572
http://dx.doi.org/10.3390/genes13122305

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