Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine.

Babu Kavitha,Sampathkumar Ranganathan,Sundaramoorthy Gopi,Umashankar Vetrivel, Nagarajan Hemavathy,Viswanathan Mohan,Venkatesan Radha

Frontiers in endocrinology（2023）

引用 0|浏览1

暂无评分

摘要

Our findings are the first to show the need of using additive scores during molecular characterization for accurate pathogenicity evaluations of variants in precision medicine.

查看译文

关键词

hnf1a variants,re-interpretation

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