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Article

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.

Clinical genetics - 1 Feb 2026

Yin Kaili, Qi Qingwei

Abstract excerpt

Advances in next-generation sequencing (NGS) have revolutionized clinical and translational medicine. NGS is increasingly used in the diagnosis of genetic diseases, including newborn screening, prenatal screening and diagnosis, and preimplantation screening. While advancements in sequencing and bioinformatics have facilitated the discovery of novel genes and diseases, the identification of variants continues to...

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PMID: 41063624
DOI: 10.1111/cge.70086
PMCID: PMC12779180

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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