rs76368635
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
|
10973259 |
2000 |
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.
|
11590545 |
2001 |
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.
|
11590545 |
2001 |
rs80338826
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs80338826
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.
|
11590545 |
2001 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
R702C and R702H mutations were only associated with FTNS, EPS, or APSM, thus defining a region of MYHIIA critical in the combined pathogenesis of macrothrombocytopenia, nephritis, and deafness.
|
11590545 |
2001 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs121913655
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs121913655
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs121913656
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs121913656
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs121913657
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs121913657
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs80338829
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs80338829
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs80338830
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs80338830
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs200901330
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs200901330
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs554332083
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs554332083
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs762773112
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
|
11590545 |
2001 |
rs762773112
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |