Varaico: Literature-Extracted Genetic Variants

Gene:AHCY
Variant:p.A48T
Back to variants list

AHCY

NM_000687.4:p.A48T

Associated Papers

The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency.

Huang Y et al.

Molecular Genetics and Metabolism Reports, 2022

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

Grudzinska Pechhacker MK et al.

Ophthalmic Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."