Varaico: Literature-Extracted Genetic Variants

Gene:GNMT
Variant:p.A259V
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GNMT

NM_018960.6:p.A259V

Associated Papers

Comparative analysis of inherited metabolic diseases in normal newborns and high-risk children: Insights from a 10-year study in Shanghai.

Zhang X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.

Tong F et al.

Frontiers in Cell and Developmental Biology, 2022

Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.

Zhang Z et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.

Fernández-Irigoyen J 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."