rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
A
0.810
GeneticVariation
CLINVAR
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
UNIPROT
Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia.
1996985
1991
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
UNIPROT
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
1634607
1992
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
UNIPROT
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
11592811
2001
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
UNIPROT
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
11286506
2001
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
A
0.810
CausalMutation
CLINVAR
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients.
15192636
2004
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
UNIPROT
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
28244183
2017
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
A
0.810
CausalMutation
CLINVAR
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
28244183
2017
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
UNIPROT
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
28737873
2017
rs386833556
×
Entrez Id:
2731
Gene Symbol:
GLDC
GLDC
Nonketotic Hyperglycinemia
0.810
GeneticVariation
BEFREE
A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp ) in the GLDC gene.
31349202
2019