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

ABSTRACT:

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 infrastructure and Wanfang databases. Patient data was extracted from articles eligible for inclusion and recorded in Excel electronic form using a case-by-case approach.

Results

A total of 218 articles, 93 published in English and 125 in Chinese, were retrieved. After variant annotation and deduplication, 575 unique patients (241 from articles published in Chines

SUBMITTER: Guo Y 

PROVIDER: S-EPMC10262587 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature