Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.D179_G185del0
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CBS

NM_000071.3:p.D179_G185del0

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

Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.

Ruhoy IS et al.

Pediatric Neurology, 2014

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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."