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Quantitative Natural History Modeling of HPDL-related Disease Based on Cross-Sectional Data Reveals Genotype-Phenotype Correlations

GENETICS IN MEDICINE(2025)

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Key words
Genotype-phenotype correlation,Hereditary spastic paraplegia,HPDL,Natural history,SPG83,Encephalopathy,Mitochondrial,NEDSWMA,Phenotypic clustering
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