Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

In addition, p.Ser216Pro, p.Arg493Trp, p.Arg519Gly and p.Pro718Leu variants had a reduced signal with FLAG and SART3 antibodies, although this did not reach statistical significance over three replicates (Fig. 2d, e and Supplementary Fig. 2a, b ).

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