Article

A rapid ONT-based sequencing approach to capture complete Ataxia-Mutomes (AtaxiaMutSeq)

2025-12-19

Abstract excerpt

Hereditary ataxias are complicated neurological disorders with enormous genetic heterogeneity as well as the diverse genetic mechanism. Among different genetic mechanism, tandem nucleotide repeat expansion (TNRex) are the most common cause for genetic ataxias followed by single nucleotide variations in over 200 genes. The detection and the diagnosis of tandem nucleotide repeats in clinics and laboratories has been...

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Literature Corpus work: c7242f9e-2db7-58be-acde-09fb068381c4
DOI: 10.64898/2025.12.18.25342589

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