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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAMT

Variant:p.Q148fs

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GAMT

NM_000156.6:p.Q148fs

hg38:chr19:1399145 CTG>N

Associated Papers

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency.

Lee A et al.

Jimd Reports, 2025

40330029 (PubMed )

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