Articles with "disease variants" as a keyword



Photo from wikipedia

15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms

Sign Up to like & get
recommendations!
Published in 2019 at "Nucleic Acids Research"

DOI: 10.1093/nar/gky1159

Abstract: Abstract For 15 years the mission of PhosphoSitePlus® (PSP, https://www.phosphosite.org) has been to provide comprehensive information and tools for the study of mammalian post-translational modifications (PTMs). The number of unique PTMs in PSP is now… read more here.

Keywords: disease variants; biology; integrating post; phosphositeplus integrating ... See more keywords
Photo from wikipedia

Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs

Sign Up to like & get
recommendations!
Published in 2022 at "PLOS Genetics"

DOI: 10.1371/journal.pgen.1010651

Abstract: Hundreds of genetic variants linked to Mendelian disease have been characterized in dogs to date, and commercial screening is being offered for most of them worldwide. There typically remains a paucity of information regarding the… read more here.

Keywords: relevance; disease; prevalence; disease variants ... See more keywords