rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
|
26364555 |
2015 |
rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
|
25921057 |
2015 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
|
25921057 |
2015 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
|
26364555 |
2015 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.
|
26364555 |
2015 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
|
25921057 |
2015 |
rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
|
22436456 |
2012 |
rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
|
22419483 |
2012 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
|
22419483 |
2012 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
|
22436456 |
2012 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.
|
22419483 |
2012 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.
|
22436456 |
2012 |
rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
|
21368916 |
2011 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
|
21368916 |
2011 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
|
21706002 |
2011 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
|
21368916 |
2011 |
rs1427299519
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.
|
15040442 |
2004 |
rs1555912419
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.
|
15040442 |
2004 |
rs777537805
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.
|
15040442 |
2004 |