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 |
Do NF1 gene deletions result in a characteristic phenotype?
|
9375928 |
1997 |
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 |
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
|
15221447 |
2004 |
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 |
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 |
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
|
16786042 |
2006 |
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 |
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 |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
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 revisited.
|
19117870 |
2009 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
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 |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
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 |
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 |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
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 |
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 |
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 |
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 |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |