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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 (#0000879)
||Cartault et al., 2014|
||The authors describe 22 cases displaying symptoms of Larson of Reunion Island syndrome each of whom is homzygous for the same variant. They estimate the mutant allele frequency to be 0.02 in the white creole ethnic group.|