rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
rs1555534380
|
|
A |
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 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
|
16542390 |
2006 |
rs1555534380
|
|
A |
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 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
|
16786042 |
2006 |
rs1555534380
|
|
A |
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 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
|
25324428 |
2015 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
|
15221447 |
2004 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
|
23812910 |
2013 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
|
20142468 |
2010 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
|
1770531 |
1991 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
|
6025371 |
1967 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1 revisited.
|
19117870 |
2009 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Do NF1 gene deletions result in a characteristic phenotype?
|
9375928 |
1997 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
rs1555534380
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |