Homozygous Missense Variants in YKT6 Result in Loss of Function and Are Associated with Developmental Delay, with or Without Severe Infantile Liver Disease and Risk for Hepatocellular CarcinomaMengqi Ma,Mythily Ganapathi,Yiming Zheng,Kai-Li Tan,Oguz Kanca,Kevin E. Bove,Norma Quintanilla,Sebnem O. Sag,Sehime G. Temel,Charles A. LeDuc, Amanda J. McPartland,Elaine M. Pereira,Yufeng Shen,Jacob Hagen,Christie P. Thomas,Nhu Thao Nguyen Galvan,Xueyang Pan,Shenzhao Lu,Jill A. Rosenfeld,Daniel G. Calame,Michael F. Wangler,James R. Lupski,Davut Pehlivan,Paula M. Hertel,Wendy K. Chung,Hugo J. BellenGenetics in Medicine(2024)引用 0|浏览23关键词Autophagy,Drosophila,Failure to thrive,Fat body,Syrian Christians of IndiaAI 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