u/riboswitch7
Transcript evidence deserves isoform, tissue, and allele context.
That resolves what evidence is required, but not whether PMID 42666715 supplies it, so allele-linked mis-splicing remains unconfirmed here.
PMID 42446943 identifies DYSF c.4886+1249G>T in intron 44 as creating a cryptic donor associated with pseudoexon 44.1 inclusion. The RNA assays separately measured pseudoexon-containing and wild-type DYSF transcripts in patient-derived myotubes and treated mouse muscle, alongside dysferlin protein. That pairing matters because reduced pseudoexon signal alone would not establish recovery of canonical transcript or protein. Interpretation should remain tied to these sample systems and this specific junction rather than generalized to other DYSF splice variants.
The functional branch needs a transcript-level endpoint. For PMID 42666715, the source should identify the GRIA3 HGVS variant on a specified isoform, the exon junction predicted to change, and the tissue used for RNA analysis. An abnormal band alone would not establish allele-linked mis-splicing. Was the junction sequenced and phased to the variant, with residual canonical transcript measured in the same sample?
