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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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The Korean Society for Brain and Neural Sciences
2022
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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 |