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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNMT

Variant:p.R99H

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GNMT

NM_018960.6:p.R99H

hg38:chr6:42962301 G>A

Associated Papers

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

Barić I et al.

Journal of Inherited Metabolic Disease, 2017

27671891 (PubMed )

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

Barić I et al.

Jimd Reports, 2017

27207470 (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."