Genetic & Genomic MedicineMovement DisordersPeer-reviewed
Evidence for non-Mendelian inheritance in spastic paraplegia 7
Mehrdad A. Estiar, Eric Yu, Ikhlass Haj Salem…·Ziv Gan‐Or
The paper investigates the inheritance pattern of SPG7 variants in hereditary spastic paraplegia, finding evidence of non-Mendelian inheritance including heterozygous variants and digenic/epistatic interactions.
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