|
rs386833556
|
|
|
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 |
|
rs772871471
|
|
|
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 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
|
28244183 |
2017 |
|
rs386833556
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
|
28244183 |
2017 |
|
rs386833556
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
|
28244183 |
2017 |
|
rs386833556
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
|
28737873 |
2017 |
|
rs772871471
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
|
28244183 |
2017 |
|
rs772871471
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
|
28737873 |
2017 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.
|
26371980 |
2016 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
|
16051266 |
2005 |
|
rs386833556
|
|
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 |
|
rs121964983
|
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
|
11592811 |
2001 |
|
rs386833556
|
|
|
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 |
|
rs772871471
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis.
|
11592811 |
2001 |
|
rs772871471
|
|
|
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 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
|
10873393 |
2000 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH.
|
9600239 |
1998 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
|
9621520 |
1998 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Genotype analyses of 26 family members confirmed that the homozygous H42R mutation was completely associated with the onset of NKH.
|
9600239 |
1998 |
|
rs121964983
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
|
8005589 |
1994 |
|
rs386833556
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
|
1634607 |
1992 |
|
rs772871471
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
|
1634607 |
1992 |
|
rs386833556
|
|
|
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 |
|
rs772871471
|
|
|
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 |