|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
|
25614872 |
2014 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Ten new ATM alterations in Polish patients with ataxia-telangiectasia.
|
25614872 |
2014 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
|
23807571 |
2013 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
|
23807571 |
2013 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
|
21459046 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
|
21459046 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
|
21445571 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
|
21459046 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
|
21792198 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
|
21445571 |
2011 |
|
Ataxia Telangiectasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.
|
11298136 |
2001 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.
|
11298136 |
2001 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.
|
11298136 |
2001 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
Ataxia Telangiectasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
Ataxia Telangiectasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
|
10980530 |
2000 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
Ataxia Telangiectasia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
Ataxia Telangiectasia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
|
10330348 |
1999 |