Quantitative Natural History Modeling of HPDL-related Disease Based on Cross-Sectional Data Reveals Genotype-Phenotype Correlations
GENETICS IN MEDICINE（2025）
关键词
Genotype-phenotype correlation,Hereditary spastic paraplegia,HPDL,Natural history,SPG83,Encephalopathy,Mitochondrial,NEDSWMA,Phenotypic clustering
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