Varaico: Literature-Extracted Genetic Variants

Gene:GAMT
Variant:p.D135H
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GAMT

NM_000156.6:p.D135H

Associated Papers

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2

Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase.

Alyazidi AS et al.

Journal of Microscopy and Ultrastructure, 0

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