Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutational landscape of aggressive cutaneous squamous cell carcinoma.
|
25303977 |
2014 |
Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.
|
24789685 |
2014 |
Ataxia Telangiectasia
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Cognitive phenotype in ataxia-telangiectasia.
|
25037873 |
2014 |
Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.
|
23612382 |
2013 |
Ataxia Telangiectasia
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.
|
23612382 |
2013 |
Ataxia Telangiectasia
|
|
0.710 |
GeneticVariation
|
CLINVAR |
In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan).
|
15164409 |
2004 |
Ataxia Telangiectasia
|
|
0.710 |
GeneticVariation
|
BEFREE |
In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan).
|
15164409 |
2004 |
Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan).
|
15164409 |
2004 |
Ataxia Telangiectasia
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Predominance of null mutations in ataxia-telangiectasia.
|
8845835 |
1996 |
Ataxia Telangiectasia
|
|
0.710 |
CausalMutation
|
CLINVAR |
Predominance of null mutations in ataxia-telangiectasia.
|
8845835 |
1996 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
|
28779002 |
2017 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
|
28152038 |
2017 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
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 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.
|
24789685 |
2014 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cognitive phenotype in ataxia-telangiectasia.
|
25037873 |
2014 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.
|
23612382 |
2013 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of two mutations for ataxia telangiectasia among the Druze community.
|
15164409 |
2004 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Predominance of null mutations in ataxia-telangiectasia.
|
8845835 |
1996 |