Article: Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.
2022 Volume 31, Issue 1, Page(s) 1–16
Abstract: 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 ... ...
Abstract | 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 processes involving experts in diverse areas of interest, including clinicians, bioinformaticians and research scientists. Recent efforts in building large-scale genomic databases and |
---|---|
Language | English |
Publishing date | 2022-03-07 |
Publishing country | Korea (South) |
Document type | Journal Article ; Review |
ZDB-ID | 2639017-6 |
ISSN | 2093-8144 ; 1226-2560 |
ISSN (online) | 2093-8144 |
ISSN | 1226-2560 |
DOI | 10.5607/en22003 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.