Varaico: Literature-Extracted Genetic Variants

Gene:GATM
Variant:p.I337M
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GATM

NM_001482.3:p.I337M

Associated Papers

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

Mejdahl Nielsen M et al.

Molecular Genetics and Metabolism, 2023

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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."