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

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 se...

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Detalles Bibliográficos
Autores principales: Guo, Yongchao, Jiang, Jianhui, Xu, Zhongyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262587/
https://www.ncbi.nlm.nih.gov/pubmed/37308883
http://dx.doi.org/10.1186/s13023-023-02726-1

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