|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
|
27664052 |
2017 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Ataxia telangiectasia: more variation at clinical and cellular levels.
|
25040471 |
2015 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
|
19431188 |
2009 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
|
10817650 |
2000 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
|
9887333 |
1999 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations.
|
10234507 |
1999 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ATM mutations in patients with ataxia telangiectasia screened by a hierarchical strategy.
|
9711876 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.
|
9443866 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.
|
9450874 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
|
9497252 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
|
9872980 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ATM germline mutations in classical ataxia-telangiectasia patients in the Dutch population.
|
9792409 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia.
|
9521587 |
1998 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
|
9150358 |
1997 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
|
8808599 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Predominance of null mutations in ataxia-telangiectasia.
|
8845835 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations associated with variant phenotypes in ataxia-telangiectasia.
|
8755918 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia.
|
9043869 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.
|
9000145 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.
|
8789452 |
1996 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.
|
8589678 |
1995 |
|
Ataxia Telangiectasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
|
7792600 |
1995 |
|
Ataxia-Telangiectasia Variant
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|