rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
|
27913932 |
2017 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
|
25122203 |
2014 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
|
23454770 |
2013 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
|
21665257 |
2011 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
|
17910737 |
2008 |
rs587782719
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
|
17124347 |
2006 |
rs587782719
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
|
16941484 |
2006 |