rs1060499532
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1060499533
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
rs1060499534
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1060499535
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
|
19748572 |
2009 |
rs1064792865
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs1064792866
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792867
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792868
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.
|
15742109 |
2005 |
rs1064792869
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792870
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792871
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE.
|
15505189 |
2004 |
rs1064792872
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792873
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792874
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs1064792875
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1064792876
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs1064792877
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792877
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs1064792878
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
rs1064792878
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
rs1064792879
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
rs1064792881
|
|
AGCCGTCGTCCAGCGCCGC |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variability in a Spanish family with MNGIE.
|
12177387 |
2002 |
rs1064792885
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
|
19748572 |
2009 |
rs1064792887
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
MNGIE: diarrhea and leukoencephalopathy.
|
12084896 |
2002 |
rs1064792888
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |