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The B3GALT6 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 (#0001857)
||Trejo et al., 2017|
||The proband also had two siblings who carried both variants in B3GALT6, and were positive for SEMDJL, with some clinical variability. They were also described in Ranza et al., 2017|
||c.901_921dup (View in UCSC Genome Browser, Ensembl)|