|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
|
9521587 |
1998 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A gene transcribed from the bidirectional ATM promoter coding for a serine rich protein: amino acid sequence, structure and expression studies.
|
8923007 |
1996 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
|
8808599 |
1996 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
|
8808599 |
1996 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.
|
9682216 |
1998 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer.
|
18807267 |
2009 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.
|
25077176 |
2014 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Activation and regulation of ATM kinase activity in response to DNA double-strand breaks.
|
18066086 |
2007 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity.
|
15174027 |
2004 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.
|
27159176 |
2016 |
|
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 |
CausalMutation
|
group |
CLINVAR |
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.
|
26220245 |
2016 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
|
23946315 |
2013 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.
|
23946315 |
2013 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia telangiectasia: the consequences of a delayed diagnosis.
|
21354641 |
2011 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
|
26380989 |
2015 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia-telangiectasia with female fertility.
|
25914063 |
2015 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
|
9443866 |
1998 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
|
9443866 |
1998 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
|
8659541 |
1996 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.
|
8659541 |
1996 |
|
C11orf65
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
|
C11orf65
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |