Genetic & Genomic MedicinemedRxivPreprint
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity
Abiola Harrison, Shiva Ganesan, Hongbo Michael Xie…·Ingo Helbig
The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.
DOI 10.64898/2026.04.05.26350183