Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.E211K
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AMT

NM_000481.4:p.E211K

Associated Papers

Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.

Bayrak H et al.

Metabolic Brain Disease, 2021

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s005.xlsx › Table_S2

Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.

Genç Sel Ç et al.

Brain & Development, 2018

Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Ostrowski J et al.

Scientific Reports, 2016

28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6

Genetic association of the glycine cleavage system genes and myelomeningocele.

Shah RH et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2016

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A et al.

Human Molecular Genetics, 2012

Channelling and formation of 'active' formaldehyde in dimethylglycine oxidase.

Leys D et al.

The Embo Journal, 2003

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).

Toone JR et al.

Molecular Genetics and Metabolism, 2003

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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."