Article

Integrated whole exome sequencing and functional approach delineate genetic heterogeneity in cerebellar ataxias

2021-08-02

Abstract excerpt

<h4>Purpose: </h4> Disease deconvolution in heterogeneous cerebellar ataxias (CAs) needs a focussed approach to overcome the diagnostic challenges. A diverse clinical presentation with over 100 reported genetic loci, in addition to the various challenges associated with genotype-phenotype correlation complicate the genetic diagnosis in 40-60% of the CA cases that remain uncharacterized. We present here an integrat...

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Literature Corpus work: 7032cab8-f986-518e-bbd9-476720470bb9
DOI: 10.21203/rs.3.rs-757408/v1

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