id author title date pages extension mime words sentences flesch summary cache txt work_k2iypeve6rgjbkoz7xv76uf32a Nathalie Ronce A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family 1997.0 .pdf application/xml 144 26 71 sys_1000 wp-p1m-39.ebi.ac.uk wp-p1m-39.ebi.ac.uk exception exception Params is empty Params is empty Params is empty if (typeof jQuery === "undefined") document.write('[script type="text/javascript" src="/corehtml/pmc/jig/1.14.8/js/jig.min.js"][/script]'.replace(/\[/g,String.fromCharCode(60)).replace(/\]/g,String.fromCharCode(62))); // // // window.name="mainwindow"; .pmc-wm {background:transparent repeat-y top left;background-image:url(/corehtml/pmc/pmcgifs/wm-nobrand.png);background-size: auto, contain} .print-view{display:block} Page not available Reason: The web page address (URL) that you used may be incorrect. Message ID: 219632400 (wp-p1m-39.ebi.ac.uk) Time: 2021/04/06 02:38:15 If you need further help, please send an email to PMC. Include the information from the box above in your message. Otherwise, click on one of the following links to continue using PMC: Search the complete PMC archive. Browse the contents of a specific journal in PMC. Find a specific article by its citation (journal, date, volume, first page, author or article title). http://europepmc.org/abstract/MED/ ./cache/work_k2iypeve6rgjbkoz7xv76uf32a.pdf ./txt/work_k2iypeve6rgjbkoz7xv76uf32a.txt