Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders
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Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...
LCC LCC:MedicineIdioma eng
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