Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.R317G
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CBS

NM_000071.3:p.R317G

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.

Qu R et al.

Frontiers in Neurology, 2025

Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report.

Shang K et al.

Medicine, 2019

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

[Association of plasma homocysteine and cystathionine beta-synthase polymorphism with cerebral thrombosis].

Shao Y et al.

Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2005

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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."