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The difference between codes 5 and 9 is that variants with code 5 are expected to have a universal effect on drug response based on mutation type, whereas the broader effect of those with code 9 is either unknown or unsupported based on the type or location of the mutation, or based on the observed variable or drug-specific effects.
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Based on the mutation type, the combinatorial effects of two mutations or of one mutation with the wild-type protein can set the course of the disease and generate a mild to severe gradient of symptoms.
Based on the mutation type and the pattern of inheritance, a mutation in the sucrase-isomaltase gene may exert a variety of symptoms ranging from mild to severe.
In subgroups based on specific mutation type, the RR was 66% among 106 patients with common mutations (exon deletion 19 or exon 21 L858R) and 39% among 23 patients with other mutations.
However, treatment with lorlatinib seems very expensive in developing countries and selection of ALK-TKI based on patients' mutation type still lacks strong clinical evidence.
Personalization was based on mutations and analyses of the transcriptomes and immunopeptidomes of the individual tumours.
Each matrix entry is categorized into one of three groups based on the type of mutation: no mutation, single base substitution, insertion/deletion of < 200 base pairs.
Among the carriers of a germline p53 mutation, we first performed a log-rank test for risk differences based on sex and mutation type, using the Kaplan-Meier product-limit method.
Therefore, the phenotypic results of MeCP2 mutations in females are likely not only based on the type of mutation but also on the degree of inactivation between the mutant and wild-type alleles.
Based on the mutation frequency, how each mutation type was located in individual chromosomes can be observed by calculating the percentage of mutation type in relation to the SNP total in each chromosome.
Moreover, among DMD patients, the clinical course of the disease and response to steroid treatment cannot be entirely predicted based on the type of mutation.
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