SMN2 Copy Number and Rare Variant Influence SMA Severity

SMN2 Copy Number and Rare Variant Influence SMA Severity

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SMN2 Copy Number and Rare Variant Influence SMA Severity

The number of copies of the “backup” SMN2 gene and a rare genetic variant in this gene influence disease severity in people with spinal muscular atrophy (SMA), according to data from more than 2,000 people involved in a free SMA genetic testing program. Launched in 2018 by Biogen and Invitae Corporation, the program, called SMA Identified, resulted in a high diagnostic yield, further supporting the importance of genetic testing in individuals with a confirmed or…

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