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Interpreting Variants with the AmplideX PCR/CE SMN1/2 Plus and SMA Plus Kits
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"Interpreting Variants with the AmplideX PCR/CE SMN1/2 Plus and SMA Plus Kits"

Interpreting Meaningful Variants in SMN1 and SMN2

Is quantification of SMN1 and SMN2 copy number enough? This white paper reviews the latest literature to reinforce the importance of detecting SMN1 gene duplication (silent carrier) and SMN2 disease modifier variants to advance SMA research, diagnosis, and screening. 


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