×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
28101778
2017
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia.
28811685
2017
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
27591164
2017
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
26615597
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.
26449400
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
26270765
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
27167370
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
26615597
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
MGD
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
27519416
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
27233228
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
27578510
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
27233228
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
UNIPROT
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
27167370
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.
26790480
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
27233228
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].
27751223
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
CLINGEN
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
27519416
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
26270765
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
27167370
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.
26790480
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
disease
CLINVAR
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria.
27489777
2016
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
CausalMutation
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
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
25959030
2015
×
Entrez Id:
4594
Gene Symbol:
MMUT
MMUT
0.900
GeneticVariation
disease
CLINVAR
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).
25959030
2015