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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAMT

Variant:p.W102C

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GAMT

NM_000156.6:p.W102C

hg38:chr19:1399814 C>G

Associated Papers

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

DesRoches CL et al.

Human Mutation, 2016

27233232 (PubMed )

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