|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1.
|
11134142 |
2000 |
|
rs104894264
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
|
9683585 |
1998 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland.
|
11303512 |
2001 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1.
|
10762295 |
2000 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study.
|
11836268 |
2002 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation.
|
17766710 |
2007 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
|
12050235 |
2002 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.
|
12652570 |
2003 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
|
9463336 |
1998 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms.
|
21819486 |
2011 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
|
12112656 |
2002 |
|
rs104894264
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway.
|
15254225 |
2004 |