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Article

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.

Journal of human genetics - 1 Apr 2024

Chen Li Shan, Yu Cheng Wei, Li Wei Jiun, Hsieh Wen Chi, Li Yi Ping

Abstract excerpt

Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the frequency and uncertain nature of genetic variants was identified in Taiwanese population, providing individuals with information at risk of inherited diseases and their heritability to newborns. A total of 480 subjects receiving genetic counseling with no family...

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PMID: 38135707
DOI: 10.1038/s10038-023-01212-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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