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Ethnically unique disease burden and limitations of current expanded carrier screening panels.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics - 1 Mar 2024

Chen Chih-Ling, Lee Ni-Chung, Chien Yin-Hsiu, Hwu Wuh-Liang, Hung Miao-Zi, Lin Yi-Lin, Lin Shin-Yu, Lee Chien-Nan

Abstract excerpt

OBJECTIVES: The purpose of the study is to identify the recessive diseases currently affecting real-world pediatric patients in Taiwan, and whether current extended carrier screening panels have the coverage and detective power to identify the pathogenic variants in the carrier parents. METHODS: A total of 132 trio-samples were collected from May 2017 to March 2022. The participants were parents of pediatric...

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PMID: 37681470
DOI: 10.1002/ijgo.15072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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