Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"SMAD9"”.
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Common genetic variance at the SMAD9 colorectal cancer risk locus influences tumour mutational phenotype
… these showed a significant relationship with the SMAD9 (rs493248) locus and this locus was selected for further investigations. These revealed a relative depletion of highly mutated microsatellite instable (MSI) tumours on the risk allele background. This was verified in a meta-analysis of 5 …
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Phenotype – genotype associations in a large cohort of patients with pulmonary arterial hypertension
… observed. Four patients carried variants in both SMAD9 and either BMPR2 or EIF2AK4. The clinical significance of this requires further study. Unexpectedly, biallelic variants in EIF2AK4 were identified in patients with a clinical diagnosis of idiopathic PAH. These patients had a significantly …