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Pathogenic role of adhesion G protein-coupled receptor G2 (ADGRG2) in congenital bilateral absence of the vas deferens (CBAVD) patients replicated in Chinese population

Journal of Andrology Aug 18, 2017

Yang B, et al. – Researchers carried out a single population replication study in Chinese congenital bilateral absence of the vas deferens patients to replicate its role in congenital bilateral absence of the vas deferens (CBAVD) developing. They did not observe any potential pathogenic cystic fibrosis transmembrane conductance regulator (CFTR) variants, implying the adhesion G protein–coupled receptor G2 (ADGRG2) variants are the genetic cause in these patients. To the best of the authors' knowledge, these are the first two ADGRG2 variants to be distinguished in Chinese congenital bilateral absence of the vas deferens patients, which further validate the disease–causing role of ADGRG2 in this congenital defect.
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