Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

The implementation of NGS methods into clinical practice allowed researchers effectively to establish the molecular cause of a disorder in cases of a genetically heterogeneous pathology. In cases of several potentially causative variants, we need additional analysis that can help in choosing a prope...

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Detalles Bibliográficos
Autores principales: Shchagina, Olga, Orlova, Mariya, Murtazina, Aisylu, Filatova, Alexandra, Skoblov, Mikhail, Dadali, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298462/
https://www.ncbi.nlm.nih.gov/pubmed/37372933
http://dx.doi.org/10.3390/ijms24129786

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10298462/
https://www.ncbi.nlm.nih.gov/pubmed/37372933
http://dx.doi.org/10.3390/ijms24129786

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