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The objective of this work was to determine the genetic basis of MLS and the molecular consequence of the identified mutation.
However, analysis of mutant mRNA or protein from patient cells to confirm the consequence of the identified SALL2 mutation was not feasible due to lack of availability of suitable patient tissue.
Although our results suggest that loss of function of CAT-3 is the main consequence of the identified missense variants, the functional tests performed did not permit to confirm this hypothesis for the p.Ala331Thr, initially identified in Family 505.
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The functional consequences of the identified mutations (i.e. FLT3 up-regulation) were not examined.
We fine mapped the NMNAT2/SMG7 region in multiple ancestries and explored functional consequences of the identified variants.
With regards to the actual clinical consequences of the identified errors, sixty-eight percent were classified as near misses.
To investigate the functional consequences of the identified SLC7A3 missense variants, we analyzed the cellular distribution and transport activities of the four mutant CAT-3 transporters.
Further investigation is needed to determine the biological consequences of the identified tyrosine phosphorylation events and their relevance to the pathogenic mechanisms of glioblastoma.
This property – most probably associated with its role in placentation, see the Background section – was used to characterize further the consequences of the identified SNPs on the fusogenic function of the encoded proteins.
This innovative program was intended to eliminate extended duty hours for internal medicine senior residents and to address some of the identified consequences of duty hour restrictions on residents' wellness, health care delivery and medical education experience.
In all, the functional consequences of the variants identified as strongly associated with increased risk of normal tissue toxicity following radiation exposure suggest a high biological plausibility for our findings.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com