Article

A combined genomic and functional approach to One-Carbon Metabolism disorders in a population-based newborn screening

2026-02-12

Abstract excerpt

<title>Abstract</title> Genomic first-tier approaches are increasingly explored as a strategy for newborn screening, raising major challenges for variant interpretation in asymptomatic populations. Within the BabyDetect project, we evaluated the clinical relevance of variants detected in three key one-carbon metabolism genes – <italic>MTHFR</italic> , <italic>CBS</italic> , and <italic>MAT1A</italic> –...

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Literature Corpus work: a566520c-ca6b-5953-9ec4-2d91b59557e3
DOI: 10.21203/rs.3.rs-8763532/v1

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