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Article

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Orphanet journal of rare diseases - 12 Jun 2023

Guo Yongchao, Jiang Jianhui, Xu Zhongyao

Abstract excerpt

BACKGROUND: Population-specific variation database of inborn errors of metabolism (IEMs) is essential for precise genetic diagnosis and disease prevention. Here we presented a systematic review of clinically relevant variants of 13 IEMs genes reported among Chinese patients. METHODS: A systematic search of the following electronic databases for 13 IEMs genes was conducted: PubMed-NCBI, China national knowledge...

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Identifiers

PMID: 37308883
DOI: 10.1186/s13023-023-02726-1
PMCID: PMC10262587

Provenance

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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