Varaico: Literature-Extracted Genetic Variants

Gene:AMT
Variant:p.S117L
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AMT

NM_000481.4:p.S117L

Associated Papers

Identification of Two Novel Mutations in Aminomethyltransferase Gene in Cases of Glycine Encephalopathy.

Radha Rama Devi A et al.

Journal of Pediatric Genetics, 2018

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

Swanson MA et al.

Molecular Genetics and Metabolism, 2017

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA et al.

Annals of Neurology, 2015

26179960 (PubMed )
Supplement: ANA-78-606-s001.pdf
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