Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.E330_A331del1
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CBS

NM_000071.3:p.E330_A331del1

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

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Poloni S et al.

Molecular Genetics & Genomic Medicine, 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."