|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
|
27664052 |
2017 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.
|
26094658 |
2015 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
|
21459046 |
2011 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Functional consequences of ATM sequence variants for chromosomal radiosensitivity.
|
15101044 |
2004 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
|
12552566 |
2003 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
|
12552566 |
2003 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
BEFREE |
The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized.
|
12552566 |
2003 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Mantle cell lymphoma is characterized by inactivation of the ATM gene.
|
10706620 |
2000 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
|
10234507 |
1999 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
|
9463314 |
1998 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.
|
9450874 |
1998 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
|
9497252 |
1998 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
rs587782292
|
|
Ataxia Telangiectasia
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
|
9521587 |
1998 |