Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.I278S
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CBS

NM_000071.3:p.I278S

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

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

Cozar M et al.

Human Mutation, 2011

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