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Thus, a mutation identified by EMU with wild-type amino acid Ala, position 140 and mutated amino acid Thr is converted to A140T.
To put it in yet another way, of 100 children who inherit the kind of mutation identified by the Cardiff group, only four of them will develop ADHD.
Previously reported data suggest that only approximately 80% of OTC deficiency (OTCD) patients have a mutation identified by OTC gene sequencing.
Of tumors with apparent heterozygous deletions, one also contained a significant mutation identified by sequencing (Case 41, which harbors a 26 bp deletion, Table S1).
Patient 22 had a 578A>G mutation identified by sequencing.
A single heterozygous point mutation identified by whole exome sequencing (Arg4192His) was confirmed in the proband's retinal transcript.
Similar(37)
All mutations identified by Pyrosequencing were then confirmed and, in addition, one more mutated sample was identified in this subset of 56 samples.
The intersection of the mutations identified by WGS revealed isocitrate dehydrogenase (ICD) as consistent target in three independently evolved mutants.
Here, we investigated point mutations identified by whole-genome sequencing in mouse and human iPSCs in the context of epigenetic status.
Rebbeck found that men who carried two of the mutations identified by Tavtigian were more than twice as likely to have prostate cancer.
The main trial publication reported that only one of 296 patients allocated to PI monotherapy experienced a loss of drug options due to protease mutations (identified by local Sanger sequencing resistance tests) likely selected by study drug.
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mutation confirmed by
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mutation shared by
mutation driven by
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com