February 5, 2021  |  Video poster

Video Poster: Long-read amplicon sequencing to understand spinal muscular atrophy (SMA)

In this video, John Harting shares an ASHG 2020 poster entitled: Long-read amplicon sequencing detects a bi-allelic SMN1-SMN2 gene conversion allele that does not guarantee a spinal muscular atrophy (SMA) phenotype.

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