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Comprehensive analysis across<i>SMN2</i>excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy

2024-11-22

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe neurodegenerative disease caused by defects in the survival motor neuron 1 ( SMN1 ) gene. The wide variability in SMA severity is partially explained by an inverse correlation with copy number variation of the second human SMN gene ( SMN2 ). Nevertheless, significant variability in severity and treatment response remains unexplained, prompting a search for accessible bioma...

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Literature Corpus work
e3376c39-88f7-5751-8571-30ca6bc80470
DOI
10.1101/2024.11.21.24317551
Open publication

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Comprehensive analysis across<i>SMN2</i>excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophyDOI 10.1101/2024.11.21.24317551
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