Exome sequencing analysis of cases chosen from two independent Renal Agenesis (RA) pedigrees.

The goal of this study was to perform whole exome sequence analysis on cases chosen from two independent RA pedigrees, predict potentially deleterious variants, and conduct functional validation of etiologic variants in vertebrate animals.

本研究旨在对源自两个独立类风湿关节炎（Rheumatoid Arthritis, RA）家系的病例开展全外显子组测序分析，预测潜在有害变异，并在脊椎动物中完成致病变异的功能验证。