Varaico: Literature-Extracted Genetic Variants

Gene:AHCY
Variant:p.R49H
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AHCY

NM_000687.4:p.R49H

Associated Papers

Asymptomatic pediatric presentation of S-adenosylhomocysteine hydrolase deficiency.

Lipari Pinto P et al.

Jimd Reports, 2024

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

Stender S et al.

Molecular Genetics and Metabolism, 2015

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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."