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Article

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

International journal of molecular sciences - 6 Jun 2023

Shchagina Olga, Orlova Mariya, Murtazina Aisylu, Filatova Alexandra, Skoblov Mikhail, Dadali Elena

Abstract excerpt

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 proper causative variant. In the current study, we described a family case of hereditary motor and sensory neuropathy...

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Identifiers

PMID: 37372933
DOI: 10.3390/ijms24129786
PMCID: PMC10298462

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