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Article

<i>SMN1</i> copy-number and sequence variant analysis from next generation sequencing data

2020-04-01

Abstract excerpt

Spinal Muscular Atrophy (SMA) is a severe neuromuscular autosomal recessive disorder affecting 1/10,000 live births. Most SMA patients present homozygous deletion of SMN1 , while the vast majority of SMA carriers present only a single SMN1 copy. The sequence similarity between SMN1 and SMN2 , and the complexity of the SMN locus makes the estimation of the SMN1 copy-number by next generation sequencing (NGS) ve...

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Identifiers and source

Literature Corpus work
01a9a85c-521e-50a7-aab0-20cdf2904391
DOI
10.1101/2020.03.31.014589
Open publication

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<i>SMN1</i> copy-number and sequence variant analysis from next generation sequencing dataDOI 10.1101/2020.03.31.014589
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