ArticleThe Egyptian journal of medical human genetics2025
High prevalence and molecular spectrum of
Article in The Egyptian journal of medical human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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6 authors.
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Abstract
Background: Results: Among 228 community participants, 28% ( Conclusion: This high local carrier rate, well above Pakistan's national estimate of 5-8%, and the presence of compound heterozygotes underscore a concentrated genetic burden and the need for region-specific screening, premarital counseling, and expansion of molecular diagnostic services.
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