Publications:

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

Orphanet Journal Of Rare Diseases

Guo, Yongchao Y; Jiang, Jianhui J; Xu, Zhongyao Z

Publication Date: 2023-06-12

Variant appearance in text: IVD: 359G>A

PubMed Link: 37308883

Variant Present in the following documents:

• 13023_2023_2726_MOESM1_ESM.xlsx, sheet 1

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Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Frontiers In Genetics

Ding, Si S; Liang, Lili L; Qiu, Wenjuan W; Zhang, Huiwen H; Xiao, Bing B; Dong, Liping L; Ji, Wenjun W; Xu, Feng F; Gong, Zhuwen Z; Gu, Xuefan X; Wang, Lei L; Han, Lianshu L

Publication Date: 2022

Variant appearance in text: IVD: 359G>A

PubMed Link: 35846131

Variant Present in the following documents:

• Main text
• fgene-13-898860.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: IVD: 359G>A; Arg120Gln; rs145725101

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page