Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases

PURPOSE: Drug development strategies for genetic diseases depend critically on accurate knowledge of how pathogenic variants cause disease. For some well‐studied genes, the direct effects of pathogenic variants are well documented as loss‐of‐function, gain‐of‐function or hypermorphic, or a combinati...

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Detalles Bibliográficos
Autores principales: Ressler, Andrew K., Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834146/
https://www.ncbi.nlm.nih.gov/pubmed/36374045
http://dx.doi.org/10.1002/mgg3.2097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834146/
https://www.ncbi.nlm.nih.gov/pubmed/36374045
http://dx.doi.org/10.1002/mgg3.2097

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