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Exact(17)
This mutation is reported to destabilize the tetrameric structure of p53.
Sequencing error can cause two kinds of problems: false positives, i.e. a mutation is reported where none actually exists; false negatives, i.e. a real mutation present in the DNA is not reported.
The BRAF p.V600E hotspot mutation is reported in 3% of NSCLC and alters residues important in AKT-mediated BRAF phosphorylation, suggesting that the disruption of AKT-induced BRAF inhibition plays a role in malignant transformation [28], [30].
The prescribed drug regimen may then either contain no drugs to which a resistant mutation is reported or may contain one or more drugs to which the virus is resistant (Table 1).
This mutation is reported only once in the BIC database.
In a family with amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) which was autosomally dominantly inherited, a mutation is reported in the homeodomain of DLX3 (17q21).
Similar(43)
Although this mutation was reported in clinical cases (Drepper et al., 2011; Lai et al., 2011), the underlying pathogenic mechanism was unknown.
Beagles with the same mutation are reported to have a milder phenotype [21], [33].
Recently, a pathogenic dyskerin mutation was reported to cause DC-like symptoms in mice [26].
The p.Arg392Cys mutation was reported in co-segregation with hyperglycemia in pregnancy [33].
This molecule interacted genetically with Appl and is structurally similar to mouse NTKL/SCYL1, whose mutation was reported to cause neurodegeneration.
More suggestions(15)
mutation is supported
transfer is reported
mutation is linked
mutation is labeled
mutation is parametrised
mutation is known
mutation is implemented
mutation is shown
mutation is located
mutation is considered
mutation is required
mutation is done
mutation is identified
mutation is presented
mutation is inherited
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Justyna Jupowicz-Kozak
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