Statistical Genetics of DMD Gene Mutations in a Kazakhstan Cohort: MLPA/NGS Variant Validation and Genotype-Phenotype Modelling.

Abstract excerpt

Background: Duchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene, one of the most significant and most mutation-prone genes in the human genome. Although global mutation registries are well developed, genetic data from Central Asian populations remain extremely limited, leaving essential gaps in regional epidemiology and in the understanding of genotype-phenotype patterns. Methods:...

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