Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.W210*
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GATM

NM_001482.3:p.W210*

Associated Papers

Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy.

Finezilber Y et al.

Practical Neurology, 2024

The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.

Hong S et al.

Nature Communications, 2019

31311932 (PubMed )
Supplement: 41467_2019_10902_MOESM7_ESM.xlsx › Sheet1

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

DesRoches CL et al.

Human Mutation, 2016

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu 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."