Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.G453Splc
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CBS

NM_000071.3:p.G453Splc

Associated Papers

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria.

Liu X et al.

Biomedicines, 2025

[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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."