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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GATM

Variant:p.G207_A208del2

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GATM

NM_001482.3:p.G207_A208del2

hg38:chr15:45368120 TGGCGCC>T

Associated Papers

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

Finezilber Y et al.

Practical Neurology, 2024

38350728 (PubMed )

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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."