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nijmegen breakage syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
NBN
RAD50
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
negative regulation of telomere capping
REACTOME_HOMOLOGOUS_RECOMBINATION_REPAIR_OF_REPLICATION_INDEPENDENT_DOUBLE_STRAND_BREAKS
REACTOME_DOUBLE_STRAND_BREAK_REPAIR
regulation of telomere capping
PID_BARD1_PATHWAY
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Curated Studies
Most Correlated Studies
NPCs and iPSCs from Nijmegen breakage syndrome (NBS) patients
Mouse Phenotypes - Disorder of immune structure
OMIM - Unspecified immunity deficiency
OMIM - Nijmegen breakage syndrome
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Literature
Most Relevant Literature
Nijmegen breakage syndrome (NBS).
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.
The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects i…
DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative…
Nijmegen Breakage syndrome].
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Clinical Trials
Most Relevant Clinical Trials
Low Dose Treosulfan Based Conditioning Regimen in HSCT for Nijmegen Breakage Syndrome
Study of Teduglutide Effectiveness in Parenteral Nutrition (PN)-Dependent Short Bowel Syndrome (SBS)…
Quality of Life Assessment of Radiotherapy in Recurrent Head and Neck Cancer
Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseas…
Predictors of Tumor Response and of Radiation Therapy Side Effects in Patients With Gastrointestinal…
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