Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.S217F
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CBS

NM_000071.3:p.S217F

Associated Papers

Protein-Protein Interfaces as Druggable Targets: A Common Motif of the Pyridoxal-5'-Phosphate-Dependent Enzymes to Receive the Coenzyme from Its Producers.

Aleshin VA et al.

Biochemistry. Biokhimiia, 2023

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

CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.

Kwok JS et al.

Pathology, 2011

Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

Katsushima F et al.

Molecular Genetics and Metabolism, 2006

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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."