|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
|
25288793 |
2014 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
|
24123792 |
2013 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
|
23499752 |
2013 |
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cardiac Conduction Defects
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Leigh Disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Impaired exercise tolerance
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Bilateral striatal necrosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Amblyopia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Short stature
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Attention deficit hyperactivity disorder
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Developmental delay (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Mitochondrial Encephalomyopathies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
|
Short stature
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
|
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
|
Bilateral striatal necrosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
|
Attention deficit hyperactivity disorder
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
|
Cardiac Conduction Defects
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |