rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
|
12621333 |
2003 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
|
10973259 |
2000 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
|
12649151 |
2003 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
|
12533692 |
2003 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
|
10973260 |
2000 |
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 |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
rs80338827
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
|
11935325 |
2002 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
|
16969870 |
2006 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.
|
11752022 |
2002 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
rs80338827
|
|
|
0.810 |
GeneticVariation |
BEFREE |
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 |