https://www.selleckchem.com/products/gdc-0068.html
A variant probably underlay the disease in this pedigree. Discovery of this variant enriched the variant spectrum of HMO. To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed. The proband, his elder