rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
|
28859041 |
2018 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
|
21659346 |
2011 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
|
19302922 |
2009 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
|
18240171 |
2008 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
In a previous study, we identified four missense mutations in CAMT patients, predicting Arg102Pro, Pro136His, Arg257Cys and Pro635Leu.
|
18422784 |
2008 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.
|
11972523 |
2002 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
rs28928907
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.
|
10971406 |
2000 |
rs28928907
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs28928907
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs28928908
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs28928908
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1196161699
|
|
|
0.710 |
GeneticVariation |
BEFREE |
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents.
|
20188141 |
2010 |
rs1196161699
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
rs587778514
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
rs1448812001
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs750046020
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs763568293
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
rs146249964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
rs755257605
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.
|
23625800 |
2013 |
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
rs146249964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |