Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.R212Splc
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GLDC

NM_000170.3:p.R212Splc

Associated Papers

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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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