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DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels., , , , , , , , и . Bioinform., 31 (10): 1599-1606 (2015)When loss-of-function is loss of function: assessing mutational signatures and impact of loss-of-function genetic variants., , , , , , , , , и . Bioinform., 33 (14): i389-i398 (2017)In Silico Discrimination of Single Nucleotide Polymorphisms and Pathological Mutations in Human Gene Promoter Regions by Means of Local DNA Sequence Context and Regularity., , , , , и . In Silico Biology, 6 (1-2): 23-34 (2006)regSNPs: a strategy for prioritizing regulatory single nucleotide substitutions., , , , , , , , , и 1 other автор(ы). Bioinform., 28 (14): 1879-1886 (2012)The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease., , , , , , , и . PLoS Comput. Biol., (2016)Automated inference of molecular mechanisms of disease from amino acid substitutions., , , , , , , и . Bioinform., 25 (21): 2744-2750 (2009)Gain and loss of phosphorylation sites in human cancer., , , , , и . ECCB, стр. 241-247. (2008)Mining clinical attributes of genomic variants through assisted literature curation in Egas., , , , , , и . Database J. Biol. Databases Curation, (2016)Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome., , , , , , , , и . PLoS Comput. Biol., (2019)Overview of the interactive task in BioCreative V., , , , , , , , , и 46 other автор(ы). Database J. Biol. Databases Curation, (2016)