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The proband, who carried the mutation, shows a more severe phenotype than his brother and exhibited sleep disorder during early childhood whereas his brother did not.
The patient carrying the P69L mutation shows a relatively late age at onset of endocrine disease.
One possible explanation is that papillary carcinoma with BRAFV599R mutation shows a better prognosis without proceeding to anaplastic transformation.
In contrast, the increase in co-operativity in PrPP101L could reflect a crucial function of PrPC in modulating Ca2+ signalling where this mutation shows a malfunctional phenotype.
The 1100delC mutation shows a high prevalence in northern Europe and its homozygosity confers a fourfold increased risk of breast cancer in women [ 12].
EGFR-TKI therapy for NSCLC with an EGFR mutation shows a significantly higher response rate, longer progression-free survival, and better quality of life when compared with platinum-doublet chemotherapy [ 4, 5].
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A1555G mutation shows an antiatherosclerotic effect in primary lesion in lipofibrous plaques (P ≤ 0.05).
However, the previous analysis of lymphoblastic cells of humans carrying a hypomorphic H111R mutation shows an impaired growth of mutant cells.
All 13 cases of colorectal carcinoma with a KRAS mutation showed a gross polypoid configuration, compared to no KRAS mutation in the colorectal carcinomas with ulcerative configuration.
Fibroblast cells derived from DOA patients with missense mutation showed a significant impairment of oxidative phosphorylation (OXPHOS), mostly mediated by complex I [27].
Patients with a T790M mutation showed a more favorable prognosis.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com