A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing
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DOI: 10.3389/fgene.2023.1110307
Abstract: Introduction: Spinocerebellar ataxias 36 (SCA36) is the neurodegenerative disease caused by the GGCCTG Hexanucleotide repeat expansions in NOP56, which is too long to sequence using short-read sequencing. Single molecule real time (SMRT) sequencing can sequence… read more here.
Keywords: smrt sequencing; read sequencing; expansion; long read ... See more keywords