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In addition, another point mutation within the domain (EBV-Z-L214D) was also made because the specific mutation was known to block the dimerization and functions of EBV-Z [78].
For patient 3, no mutation was known.
Within these families, none of the 19 adults who were not carriers of the ABCC8/KCNJ11 mutation was known to be diabetic.
The status of p53 gene mutation was known for 94 tumour samples from 172 informative male oral cavity cancer patients for p53 gene exon 4. Of the 94 OSCCs, 6771.3.3%) showed alterations (mutation, LOH or both) of p53 gene (Table 5).
We also identified truncating (and likely disease-causing) mutations in two affected samples in which previously only one mutation was known (see Supplementary Figure S5 online and Supplementary Table S5 online), as well as 9 carriers in the set of 139 previously uncharacterized HapMap, 1000 Genomes Project, and Human Diversity Panel samples (see Supplementary Table S5 online).
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For those families in which the WAS mutation is known, targeted analysis of the WAS gene is recommended.
C61S mutation is known to confer resistance to TAC.
Rett syndrome, which is a progressive, central nervous system disease that is caused by a gene mutation, is known to present with various symptoms.
Kras mutation is known to be a strong indicator of resistance to EGFR targeted therapies [42], [43].
L1014S mutation is known to be associated with a high level of resistance to DDT, but a low level of resistance to pyrethroids [8].
Substitution by a valine could generate steric hindrance and this could explain why this mutation is known to increase quinolone resistance [42].
More suggestions(15)
mutation well known
mutation was verified
mutation was detected
mutation was reported
mutation was obtained
mutation was confirmed
mutation was characterized
mutation was genotyped
mutation was determined
mutation was backcrossed
mutation was introduced
mutation was termed
mutation was found
mutation was seen
mutation was named
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