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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.
Six features were selected to build a classifier: the reference allele, the substituted allele, the mutation type, the mutation impact, the subcellular location and the protein domain.
After adjusting for mutation type, the risk of breast cancer was much higher among relatives of probands with breast cancer than among relatives of patients with prostate or colon cancer (HR=3.6; 95% CI=2.1 6.2; P=0.0001).
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.
To examine the possible cumulative effects of azathioprine treatment on mutation type, the Aza-treated group was divided into two subgroups, having received greater or less than 120 months of azathioprine treatment.
Although the immunoreactive pattern fitted fully with the characterized TP53 mutation type, the considerable number of null p53 mutations (i.e. four) coupled with the lack of information regarding the localization of TP53 mutations make immunocytochemistry an inadequate indicator of TP53 function deregulation.
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Six features were used: the reference allele (REF), the substituted allele (SUB), the mutation type (TYPE), the mutation impact (SCORE), the subcellular location (SL) and the protein domain (PD).
Regardless of mutation types, the distribution of SNPs is unique between AS and AM when comparing the same chromosome.
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.
Mutation type describes the deviation from the reference sequence leading to the change in the DNA.
Recent studies have demonstrated the influence of the LDLR mutation type in the FH phenotype, associating a more severe clinical phenotype and worse advanced carotid artherosclerosis in patients with null than those with receptor-defective mutations.
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