Sentence examples for mutation in case from inspiring English sources

On the other hand, Asn655Thr mutation at exon 13 of the c-kit gene was observed as a secondary mutation in case 2 with secondary resistance to nilotinib.

Genotyping for prevalent mutations, i.e. the 985A>G mutation in case of MCADD, may represent rapid and cost-effective confirmatory techniques.

However the mutation in case 10 is even more terminal and still leads to a classical MFS phenotype.

It is intriguing that despite the TARDBP mutation in case 6 there was no TDP-43 pathology.

The L80F mutation dominates over L58F mutation in case of the double mutant (L58,80F), as seen by its overall effect on SAP activity.

Includes SNP (in case it is a common genetic variant), mutation (in case it is a rare genetic variant) and copy-number variation.

All 10 loci showed a markedly higher rate of mutation in cases compared with controls.

Our data also showed a higher tendency of KRAS mutation in cases with PIK3CA mutations (2 in 4) than in those without (6 in 90).

Our results showed higher tendency of BRCA1 founder mutation in cases than in controls and significant associations between BC and SNPs in CYP1A1 and CYP17.

As well as confirming the aetiology, finding a pathogenic mutation in cases of SRNS has other positive outcomes for affected patients.

In addition, we found 3 missense mutations in case number 30T (p.R831C, p.R831C, and p.V897A).