Novel Splice Site and Nonsense Variants in PKHD1 Cause Autosomal Recessive Polycystic Kidney Disease in a Chinese Zhuang Ethnic Family
MEDICINE（2024）
关键词
autosomal recessive polycystic kidney disease,PKHD1 mutations,whole exome sequencing
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要