|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia.
|
23143971 |
2013 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Variants in the ATM gene and breast cancer susceptibility.
|
19348699 |
2009 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
|
22345219 |
2012 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
|
23632773 |
2013 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
|
24763289 |
2014 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
|
28195393 |
2017 |
|
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 |
CausalMutation
|
group |
CLINVAR |
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.
|
22071889 |
2012 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Two ATM variants and breast cancer risk.
|
15880680 |
2005 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Transposable elements in disease-associated cryptic exons.
|
19823873 |
2010 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia.
|
25122203 |
2014 |
|
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 |
CausalMutation
|
group |
CLINVAR |
The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM.
|
16603769 |
2006 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
|
25614872 |
2014 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.
|
25480502 |
2015 |
|
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 |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
C11orf65
|
0.100 |
CausalMutation
|
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 |
Spontaneous ATM Gene Reversion in A-T iPSC to Produce an Isogenic Cell Line.
|
26677768 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Somatic ATM mutations indicate a pathogenic role of ATM in B-cell chronic lymphocytic leukemia.
|
10397742 |
1999 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.
|
15054841 |
2004 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
|
12655570 |
2003 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
|
22146522 |
2012 |