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Article

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

Journal of applied genetics - 1 Sept 2022

Radziwonik Wiktoria, Elert-Dobkowska Ewelina, Klimkowicz-Mrowiec Aleksandra, Ziora-Jakutowicz Karolina, Stepniak Iwona, Zaremba Jacek, Sulek Anna

Abstract excerpt

Hereditary ataxias (HA) are a rare group of heterogeneous disorders. Here, we present the results of molecular testing of a group of ataxia patients using a custom-designed next-generation sequencing (NGS) panel. Due to the genetic and clinical overlapping of hereditary ataxias and spastic paraplegias (HSP), the panel encompasses together HA and HSP genes. The NGS libraries, comprising coding sequences for 152...

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PMID: 35588347
DOI: 10.1007/s13353-022-00701-3

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