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.
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?
