|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
|
20101697 |
2010 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
|
18823382 |
2009 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.
|
18355998 |
2008 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
|
18178612 |
2008 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
|
17873119 |
2007 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Mutation screening in juvenile polyposis syndrome.
|
16436638 |
2006 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
|
15031030 |
2004 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.
|
15235019 |
2004 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
|
14526373 |
2003 |
|
rs587783060
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis.
|
10764709 |
2000 |