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Examples of FMO allelic variation and splicing variants suggest that these genetic mutations could contribute to the interindividual and interethnic variability of FMO-mediated metabolism.
Cancer syndromes and mutations could contribute to the observed aggregation of pancreatic cancer with other cancers.
Taken together, downregulation of Smurf2 in TNBCs with RB mutations could contribute to the malignant phenotypes at multiple levels.
Similarly, loss of DNA methylation at these three genes found in female carriers of KDM5C mutations could contribute to learning difficulties frequently observed in such individuals [ 5, 7].
Although the sample size was not large, the novel DDR2 mutations in lung SCC suggest that DDR2 mutations could contribute to the pathogenesis of lung SCC.
Functional validation of the effects of these mutations could contribute to understanding the roles of these factors in regulating constitutive splicing.
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It is being investigated whether this gene in any state of mutation could contribute to DPB.
We can speculate that this missense mutation could contribute to the development of two renal cysts in the sister.
Since osteoclasts are the primary cells affected by PDB, we may hypothesize that a subset of cells originating from the monocytic lineage and carrying this mutation could contribute focally to the development of PDB.
Taken together, the creation of at least two transcriptional repressor binding sites in the proximal promoter of NR2E1 in patient LR00-144 supporthethe proposal that the g.-1767G>T g.-1767G>Tmutation candidatetribute to the cortical phenotype and severe mutationetardation observed in this patient.
Our detailed structural analysis of cancer associated somatic mutations has found several examples of mutations that could contribute to cancer progression through different mechanisms, all with high B-SIFT scores.
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