Varaico: Literature-Extracted Genetic Variants

Gene:AHCY
Variant:p.Y328D
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AHCY

NM_000687.4:p.Y328D

Associated Papers

SAM, SAH and C. elegans longevity: insights from a partial AHCY deficiency model.

Thapa P et al.

Npj Aging, 2023

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST21

Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations.

Judkins AJ et al.

Neonatology, 2018

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.

Motzek A et al.

Plos One, 2016

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

Stender S et al.

Molecular Genetics and Metabolism, 2015

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

Strauss KA et al.

Molecular Genetics and Metabolism, 0

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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."