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Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases

Patients suffering from rare human diseases often go through a painful journey for finding a definite molecular diagnosis prerequisite of appropriate cures. With a novel variant isolated from a single patient, determination of its pathogenicity to end such “diagnostic odyssey” requires multi-step pr...

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Detalles Bibliográficos
Autor principal: Lee, Ji-Hye
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Brain and Neural Sciences 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8907251/
https://www.ncbi.nlm.nih.gov/pubmed/35256540
http://dx.doi.org/10.5607/en22003