Publications:

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: GAA: 2484C>T; G828G

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 1

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: GAA: Gly828Gly

PubMed Link: 28573431

Variant Present in the following documents:

• 18_2017_Article_2546.pdf

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Modeling inherited cardiac disorders.

Circulation Journal : Official Journal Of The Japanese Circulation Society

Sallam, Karim K; Kodo, Kazuki K; Wu, Joseph C JC

Publication Date: 2014

Variant appearance in text: GAA: G828G

PubMed Link: 24632794

Variant Present in the following documents:

• Main text

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