Quantitative proteomics via mass spectrometry has been used to analyze the impact of a novel splicing variant in the CLBP gene found in an individual with premature ovarian insufficiency,201 and to show that an SNV in SART3 in patients with syndromic 46, XY DSD causes a reduction in SART3 protein in an unknown mechanism, thus providing evidence of pathogenicity for this novel DSD gene.168. This evidence concerns the gene SART3 and disorder of sexual differentiation.