Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.M337insFs
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CBS

NM_000071.3:p.M337insFs

Associated Papers

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.

Weber Hoss GR et al.

Molecular Genetics & Genomic Medicine, 2020

32232970 (PubMed )
Supplement: MGG3-8-e1214-s001.docx

[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].

Feng LF et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018

Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.

Li DX et al.

World Journal of Pediatrics : Wjp, 2018

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