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BioRender Template
SMA genetics
Creator
s
Description
Genetics of SMA pathology. While the Smn1 gene produces 100% of functional SMN protein, the duplicated Smn2 produces only 15% of full-length protein for a C to T transition in exon 7 that causes its retention and the production of 85% of truncated and unfunctional protein. The severity of SMA pathology caused by mutations in Smn1 could be mitigated in the presence of more copies of the Smn2 gene.
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