Visualitzant per matèria "Mutació (Biologia)"
Ara mostrant els elements 1-5 de 5
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It is possible to extrapolate pathogenicity in mutations in the same position in homologous proteins
(2023-09-10)Abstract When we compare an individual’s genome with the reference, several mutations are encountered. Most of these mutations are neutral, but some others can lead to pathogenic consequences. Given ... -
Multidisciplinary approach for the study of the lipid metabolism in colon cancer
(2021-09)Colorectal cancer is a leading cause of cancer death worldwide, its late detection contributes for become one of the deadliest. Research team of Lipids in Human Pathology has proven a relationship ... -
Pathogenicity of homologous mutations in membrane proteins
(2022-06)Les variacions en les proteïnes de membrana poden conduir a conseqüències patògenes o no patògenes. És de vital rellevància estudiar aquelles variacions que poden acabar donant patogenicitat, per tal ... -
Prediction and punctuation of the effect of non-synonymous single nucleotide polymorphisms of the structure and function of membrane proteins
(2016-09)In recent years many SNPs have been identified, some of these linked to certain diseases and other with unknown effects. Different web servers have been developed to classify SNP in pathological or not ... -
SVModeler: Simulation of human haplotypes containing synthetic structural variants
(2024-09-19)Abstract Motivation: Long-read sequencing overcomes the limits of short-reads by providing longer sequences that can span repetitive regions, improving the detection of structural variants and accurately ...