rs770641163
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene.
|
30339652 |
2019 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.
|
23774824 |
2013 |
rs770641163
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Molecular defects in Moroccan patients with ataxia-telangiectasia.
|
23322442 |
2013 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Molecular defects in Moroccan patients with ataxia-telangiectasia.
|
23322442 |
2013 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
|
21933854 |
2012 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.
|
20840352 |
2011 |
rs770641163
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.
|
20840352 |
2011 |
rs770641163
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
|
19691550 |
2009 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
|
17124347 |
2006 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
|
16238588 |
2005 |
rs770641163
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.
|
16238588 |
2005 |
rs770641163
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
|
12815592 |
2003 |
rs770641163
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
|
12815592 |
2003 |