|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.
|
18573109 |
2008 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.
|
11805335 |
2002 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
|
9792409 |
1998 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Prevalence of deleterious ATM germline mutations in gastric cancer patients.
|
26506520 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
|
21665257 |
2011 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.
|
24663073 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
|
23566627 |
2013 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
ATM mutations uniformly lead to ATM dysfunction in chronic lymphocytic leukemia: application of functional test using doxorubicin.
|
23585524 |
2013 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances.
|
11756177 |
2002 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
|
22649200 |
2012 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Clinical variability in ataxia-telangiectasia.
|
25957637 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
ATM germline mutations in women with familial breast cancer and a relative with haematological malignancy.
|
19404735 |
2010 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
|
12815592 |
2003 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
|
22146522 |
2012 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The p110 delta structure: mechanisms for selectivity and potency of new PI(3)K inhibitors.
|
20081827 |
2010 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.
|
26677768 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
|
22213089 |
2012 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
|
23143971 |
2013 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia telangiectasia: the consequences of a delayed diagnosis.
|
21354641 |
2011 |