Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Newborn screening for SCID identifies patients with ataxia telangiectasia.
|
23264026 |
2013 |
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Newborn screening for SCID identifies patients with ataxia telangiectasia.
|
23264026 |
2013 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.
|
22529920 |
2012 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
|
18634022 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive scanning of the ATM gene with DOVAM-S.
|
12552559 |
2003 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity.
|
10873394 |
2000 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
|
9463314 |
1998 |