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Article

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

American journal of medical genetics. Part A - 1 Dec 2025

Khalid Zantasha, Adams Matthew, Muhammad Anees, Tehreen Raeesa, Azeem Arfa, Ahmed Asif, Ubeyratna Nishanka, Salter Claire G, Leslie Joseph S, Voutsina Nikol, Baple Emma L, Crosby Andrew H, Firasat Sabika, Sarwar Muhammad Tahir, Saleha Shamim, Gul Asma, Rawlins Lettie E

Abstract excerpt

Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite a relatively high prevalence of inherited autosomal recessive diseases...

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Identifiers

PMID: 40714741
DOI: 10.1002/ajmg.a.64191

Genes

ACOX3
HSPG2
INTS1
PPFIBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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