Molecular Epidemiology and Variant Spectrum of Rare Genetic Diseases in the Punjabi Population: A Genomic Perspective from South Asia
Iqra Tabassum, Muhammad Shafique, Muhammad Shoaib Akhtar
This study analyzes rare genetic diseases in the Punjabi population, identifying common diseases, consanguinity rates, and socioeconomic factors affecting their prevalence.
medRxiv · Nov 5, 2025 · PreprintGenetic & Genomic Medicine