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Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.

International journal of molecular sciences - 24 Dec 2025

Tabassum Iqra, Shafique Muhammad, Akhtar Muhammad Shoaib

Abstract excerpt

Rare genetic diseases (RGDs) affect individuals, families, and healthcare systems worldwide. Population-scale genomic data remain largely restricted to Western cohorts with an estimated 10,000 RGDs. South Asian populations remain underrepresented in molecular, clinical, and genomic databases. This study presents the first preliminary molecular genetic characterization of RGDs in the Punjabi population of...

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Identifiers

PMID: 41516090
DOI: 10.3390/ijms27010206
PMCID: PMC12785397

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