转甲状腺素
后代
队列
错义突变
淀粉样变性
医学
预测(人工智能)
发病年龄
内科学
疾病
遗传学
儿科
生理学
生物
突变
基因
人工智能
怀孕
计算机科学
作者
Xujun Chu,Juan Kang,Jingwen Xu,Haishan Jiang,Zhi‐Ying Wu,Qingping Wang,Wei Li,Jia Li,Xinghua Luan,Chong Sun,Zhang‐Yu Zou,Min Zhu,Bin Chen,Xiaoxuan Liu,Meihong Zhou,Kang Du,Tao Huang,Dongsheng Fan,Zaiqiang Zhang,Daojun Hong
摘要
This study highlights that ATTRv patients in China exhibit high heterogeneity in their initial symptoms. The most common variants observed in this cohort is Val30Met. The mtDNA copy number shows gender-linked effects. These results can impact ATTRv diagnosis and patient care strategies. ANN NEUROL 2025;97:1158-1167.
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