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Most had adenocarcinoma and EGFR exon 19 deletions or L858 R mutations. The extent of disease at cancer diagnosis was available for only 604 (80.3%) patients, most of whom had distant disease at cancer diagnosis. Smoking status was available for only 301 (40.1%) patients, most of whom were nonsmokers. Performance status was available for only 273 (36.6%) patients, most of whom had limited performance status.
JMIR Cancer 2025;11:e65118
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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis
It originates from a defect in the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, resulting from mutations in the GALNS gene [1].
The deficiency of the GALNS enzyme leads to the accumulation of glycosaminoglycans, such as chondroitin-6-sulfate and keratan sulfate, in various tissues and organs.
JMIR Res Protoc 2024;13:e56649
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The volcano graph in Figure 7 shows the most significant correlation pairs, especially those containing the gene mutations mentioned above (Interactive Graph 5 [17]). Overall, a significant medium correlation between the prevalence of gene mutations and other factors was shown in the volcano graph.
JMIR Bioinform Biotech 2024;5:e56884
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The presence of a large number of mutations in its genomic sequence—especially in the spike protein region, including in the host receptor-binding domain (RBD)—raised speculations that Omicron can prove to be a serious epidemiological threat and contributor to subsequent COVID-19 waves globally [3]. Multiple sublineages of Omicron were then identified with a slightly varying set of mutations [4].
JMIR Bioinform Biotech 2023;4:e42700
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Therefore, we hypothesize that Lassa virus strains fueling the epidemic since 2017 and onwards are distinct from those isolated before 2017 in terms of small-scale mutations but not overall phylogenetic clustering patterns.
JMIR Res Protoc 2021;10(3):e23015
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