Homo sapiens mRNA for glycine amidinotransferase (L-arginine:glycine a - Nucleotide

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. [Mol Genet Metab. 2024]
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, et al. Mol Genet Metab. 2024 May; 142(1):108362. Epub 2024 Mar 2.
Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. [Sci Rep. 2023]
Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.
Tropak MB, Tkachyova I, Gu R, Lee A, Schulze A. Sci Rep. 2023 Dec 16; 13(1):22392. Epub 2023 Dec 16.
Association of Familial Fanconi Syndrome with a Novel GATM Variant. [Tohoku J Exp Med. 2023]
Association of Familial Fanconi Syndrome with a Novel GATM Variant.
Kudo H, Suzuki R, Kondo A, Nozu K, Nakamura Y, Mikami H, Soma J, Nakaya I. Tohoku J Exp Med. 2023 Aug 23; 260(4):337-340. Epub 2023 Jun 8.

RefSeq alternative splicing
See 11 reference mRNA sequence splice variants for the GATM gene.

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Nucleotide