|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.
|
19737548 |
2009 |
|
rs121918453
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.
|
18759865 |
2009 |
|
rs121918453
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.
|
19047918 |
2009 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.
|
18562489 |
2008 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.
|
17339163 |
2007 |
|
rs121918453
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
|
17177198 |
2007 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
|
16631468 |
2006 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
rs121918453
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
|
16358218 |
2006 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Noonan syndrome: relationships between genotype, growth, and growth factors.
|
16263833 |
2006 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.
|
16399795 |
2006 |
|
rs121918453
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
rs121918453
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
|
15928039 |
2005 |
|
rs121918453
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.
|
14644997 |
2004 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.
|
14974085 |
2004 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations in Noonan syndrome.
|
15001945 |
2004 |
|
rs121918453
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel PTPN11 mutation in LEOPARD syndrome.
|
14961557 |
2003 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
|
12634870 |
2003 |
|
rs121918453
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
|
12717436 |
2003 |
|
rs121918453
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |