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The B4GALT7 mutation data have been added to a new database.
|About this overview [Show]
|This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.|
|Patient data (#0001864)
||Guo et al., 2013|
||The patient was diagnosed with Progeroid EDS, with the authors arguing for the reclassification of Progeroid EDS due to its initial focus on progeroid features in patients that were not sequenced. The patient meets all the major criteria and 3/5 minor criteria for spEDS as described in the 2017 classification. This patient was later described in Guo et al., 2014 as Patient P02.|