rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
|
17704776 |
2007 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?
|
20339110 |
2010 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
|
21548021 |
2011 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.
|
3128965 |
1988 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.
|
24334617 |
2013 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Spred is a Sprouty-related suppressor of Ras signalling.
|
11493923 |
2001 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Review and update of SPRED1 mutations causing Legius syndrome.
|
22753041 |
2012 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Observations on intelligence and behavior in 15 patients with Legius syndrome.
|
21495177 |
2011 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Identification of five novel SPRED1 germline mutations in Legius syndrome.
|
21649642 |
2011 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
|
19366998 |
2009 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
|
19443465 |
2009 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs1555392032
|
|
Multiple congenital anomalies
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
SPRED 1 mutations in a neurofibromatosis clinic.
|
20179001 |
2010 |