Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.D281N
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CBS

NM_000071.3:p.D281N

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

The Spectrum of Mutations of Homocystinuria in the MENA Region.

Al-Sadeq DW et al.

Genes, 2020

A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.

Sun S et al.

Genome Medicine, 2020

32000841 (PubMed )
Supplement: 13073_2020_711_MOESM1_ESM.xlsx › Table_S1

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

Cozar M et al.

Human Mutation, 2011

Genetic aspects of ischemic stroke: coagulation, homocysteine, and lipoprotein metabolism as potential risk factors.

Stankovic S et al.

Critical Reviews in Clinical Laboratory Sciences, 0

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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."