FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2807331888> ?p ?o ?g. }

• W2807331888 abstract "Abstract Most sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with risk through unknown mechanisms. We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe associations with one missense (OR = 1.20) and one splice-donor variant (OR = 1.50) in RPL3L , the first ribosomal gene implicated in atrial fibrillation to our knowledge. Analysis of 167 RNA samples from the right atrium reveals that the splice-donor variant in RPL3L results in exon skipping. We also observe an association with a missense variant in MYZAP (OR = 1.38), encoding a component of the intercalated discs of cardiomyocytes. Both discoveries emphasize the close relationship between the mechanical and electrical function of the heart." @default.
• W2807331888 created "2018-06-13" @default.
• W2807331888 creator A5001212155 @default.
• W2807331888 creator A5001268495 @default.
• W2807331888 creator A5001824057 @default.
• W2807331888 creator A5004725925 @default.
• W2807331888 creator A5010114482 @default.
• W2807331888 creator A5011443582 @default.
• W2807331888 creator A5018239255 @default.
• W2807331888 creator A5018556494 @default.
• W2807331888 creator A5022986058 @default.
• W2807331888 creator A5027650519 @default.
• W2807331888 creator A5030057930 @default.
• W2807331888 creator A5030267686 @default.
• W2807331888 creator A5030984711 @default.
• W2807331888 creator A5033780024 @default.
• W2807331888 creator A5033902499 @default.
• W2807331888 creator A5039782389 @default.
• W2807331888 creator A5040042516 @default.
• W2807331888 creator A5042302428 @default.
• W2807331888 creator A5047380861 @default.
• W2807331888 creator A5048347827 @default.
• W2807331888 creator A5048586856 @default.
• W2807331888 creator A5049232805 @default.
• W2807331888 creator A5049411210 @default.
• W2807331888 creator A5053082085 @default.
• W2807331888 creator A5056594661 @default.
• W2807331888 creator A5058141203 @default.
• W2807331888 creator A5064287149 @default.
• W2807331888 creator A5065151039 @default.
• W2807331888 creator A5065415954 @default.
• W2807331888 creator A5078460428 @default.
• W2807331888 creator A5079788289 @default.
• W2807331888 creator A5082800110 @default.
• W2807331888 creator A5083340275 @default.
• W2807331888 creator A5084707737 @default.
• W2807331888 creator A5091855258 @default.
• W2807331888 date "2018-06-12" @default.
• W2807331888 modified "2023-10-17" @default.
• W2807331888 title "Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation" @default.
• W2807331888 cites W1907868928 @default.
• W2807331888 cites W194045617 @default.
• W2807331888 cites W1962579529 @default.
• W2807331888 cites W1990139627 @default.
• W2807331888 cites W2018509927 @default.
• W2807331888 cites W2020248903 @default.
• W2807331888 cites W2024405748 @default.
• W2807331888 cites W2033681711 @default.
• W2807331888 cites W2035347598 @default.
• W2807331888 cites W2037352731 @default.
• W2807331888 cites W2039919165 @default.
• W2807331888 cites W2056032938 @default.
• W2807331888 cites W2060167034 @default.
• W2807331888 cites W2076452380 @default.
• W2807331888 cites W2082704080 @default.
• W2807331888 cites W2104549677 @default.
• W2807331888 cites W2104570606 @default.
• W2807331888 cites W2110745807 @default.
• W2807331888 cites W2115038037 @default.
• W2807331888 cites W2117529010 @default.
• W2807331888 cites W2119180969 @default.
• W2807331888 cites W2127167918 @default.
• W2807331888 cites W2133304451 @default.
• W2807331888 cites W2135255861 @default.
• W2807331888 cites W2138595885 @default.
• W2807331888 cites W2145762889 @default.
• W2807331888 cites W2146629575 @default.
• W2807331888 cites W2147018083 @default.
• W2807331888 cites W2149200222 @default.
• W2807331888 cites W2153860431 @default.
• W2807331888 cites W2160443244 @default.
• W2807331888 cites W2168506465 @default.
• W2807331888 cites W2210694332 @default.
• W2807331888 cites W2216692507 @default.
• W2807331888 cites W2259892741 @default.
• W2807331888 cites W2323326409 @default.
• W2807331888 cites W2464070050 @default.
• W2807331888 cites W2511515754 @default.
• W2807331888 cites W2531418789 @default.
• W2807331888 cites W2549509984 @default.
• W2807331888 cites W2570396850 @default.
• W2807331888 cites W2596179513 @default.
• W2807331888 cites W2736015038 @default.
• W2807331888 cites W2737435306 @default.
• W2807331888 cites W2756152374 @default.
• W2807331888 cites W2765399005 @default.
• W2807331888 cites W4252232449 @default.
• W2807331888 doi "https://doi.org/10.1038/s42003-018-0068-9" @default.
• W2807331888 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6123807" @default.
• W2807331888 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30271950" @default.
• W2807331888 hasPublicationYear "2018" @default.
• W2807331888 type Work @default.
• W2807331888 sameAs 2807331888 @default.
• W2807331888 citedByCount "37" @default.
• W2807331888 countsByYear W28073318882018 @default.
• W2807331888 countsByYear W28073318882019 @default.
• W2807331888 countsByYear W28073318882020 @default.
• W2807331888 countsByYear W28073318882021 @default.
• W2807331888 countsByYear W28073318882022 @default.
• W2807331888 countsByYear W28073318882023 @default.

• next