rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1 revisited.
|
19117870 |
2009 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
|
6025371 |
1967 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Do NF1 gene deletions result in a characteristic phenotype?
|
9375928 |
1997 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
|
25324428 |
2015 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
|
10726756 |
2000 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
|
20142468 |
2010 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
|
26758488 |
2016 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
|
23047742 |
2013 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
|
16542390 |
2006 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
|
17105749 |
2007 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
|
27322474 |
2016 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
|
25325900 |
2014 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.
|
17369502 |
2007 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
|
23354915 |
2013 |