rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
18240171
2008
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
28859041
2018
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
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
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
GeneticVariation
CLINVAR
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
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
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.800
GeneticVariation
UNIPROT
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
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
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
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
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
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
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.
10971406
2000
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
11133753
2001
rs28928907
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
C
0.800
CausalMutation
CLINVAR
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
25538044
2015
rs28928908
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.800
GeneticVariation
UNIPROT
rs28928908
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.800
CausalMutation
CLINVAR
rs1196161699
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
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
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.710
GeneticVariation
UNIPROT
rs1006158872
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.700
GeneticVariation
UNIPROT
rs121913610
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs121913611
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs121913612
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs121913613
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
rs121913615
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
T
0.700
CausalMutation
CLINVAR
rs1343123940
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
GeneticVariation
CLINVAR
rs1343123940
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
A
0.700
CausalMutation
CLINVAR
rs1448812001
×
Entrez Id:
4352
Gene Symbol:
MPL
MPL
Congenital amegakaryocytic thrombocytopenia
0.700
GeneticVariation
UNIPROT
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
16470591
2006