rs1555533842
|
|
GC |
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 |
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 |
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 |
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
|
6025371 |
1967 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
|
1770531 |
1991 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
|
15221447 |
2004 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
16835897 |
2006 |
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 |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
|
26178382 |
2015 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
|
23244495 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
|
16786042 |
2006 |
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 |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
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 |
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 |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
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 |
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 |
Do NF1 gene deletions result in a characteristic phenotype?
|
9375928 |
1997 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
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 |
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.
|
17369502 |
2007 |