×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
26454439
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.
26454439
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria.
26420839
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
26483233
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants.
25750861
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.
25299208
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
24865477
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass.
24464670
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
25125334
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
24865477
2014
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia.
23479330
2013
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L).
24330302
2013
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
24059531
2013
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
24059531
2013
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia].
23045948
2012
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Neurocognitive phenotype of isolated methylmalonic acidemia.
22614770
2012
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
22695176
2012
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Neurocognitive phenotype of isolated methylmalonic acidemia.
22614770
2012
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.
23430940
2012
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations.
22727635
2012