RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.

The mother also demonstrated reduced TBCK expression, although this did not reach statistical significance ( P = 0.095) whereas the father had expression similar to the non-familial controls (Fig. 5 F), suggesting that the exon 23 deletion may have a more substantial effect on transcript stability or expression than the splice donor variant.

also in 111,027 other papers