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|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 (#0003184)
||Essawi et al., 2018, Belgium:Ghent|
||DNA, RNA, Protein|
||PCR, RT-PCR, SEQ, Western|
||This variant was identified in 8 affected members of the same family. The variant causes a skip of exon 2.|
This patient might be related to patient AN_005834 who is homozygous for the same variant and is also from the same city.
||c.391+4A>T (View in UCSC Genome Browser, Ensembl)|