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Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria (2018-03-14)

Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria. There are more than 100 genes known for congenital disorders of glycosylation and new disorders are discovered each year. WE included patients with a so far unsolved glycosylation disease. The diagnostic group 3-methyglutaconic aciduria is a heterogenous group of disorders mostly caused by abnormal phospholipid synthesis or in association with mitochondrial dysfunction. We included patients with a so far unsolved disease and 3-methylglutaconic aciduria. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see . This dataset contains all the data available for this study on 2018-03-14.

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Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002064 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00001580172 cram 1.9 GB
EGAF00001580173 cram 2.1 GB
EGAF00001580174 cram 2.3 GB
EGAF00001580175 cram 1.9 GB
EGAF00001580176 cram 2.1 GB
EGAF00001580177 cram 2.3 GB
EGAF00001580178 cram 2.1 GB
EGAF00001580179 cram 2.0 GB
EGAF00001580180 cram 2.1 GB
EGAF00001580181 cram 2.0 GB
EGAF00001580182 cram 2.1 GB
EGAF00001580183 cram 2.1 GB
EGAF00001580184 cram 2.0 GB
EGAF00001580185 cram 2.1 GB
EGAF00001580186 cram 2.0 GB
EGAF00001580187 cram 2.1 GB
EGAF00001753688 cram 1.0 GB
EGAF00001753689 cram 1.0 GB
EGAF00001753690 cram 1.1 GB
EGAF00001753691 cram 1.0 GB
EGAF00001753692 cram 1.1 GB
EGAF00001753693 cram 1.0 GB
EGAF00001753694 cram 1.0 GB
EGAF00001753695 cram 989.8 MB
EGAF00001753696 cram 1.0 GB
EGAF00001753697 cram 1.0 GB
EGAF00001753698 cram 1.1 GB
EGAF00001753699 cram 1.0 GB
EGAF00001753700 cram 1.1 GB
EGAF00001753701 cram 1.0 GB
EGAF00001753702 cram 1.0 GB
EGAF00001753703 cram 984.6 MB
EGAF00001753704 cram 997.5 MB
EGAF00001753705 cram 898.6 MB
EGAF00001753706 cram 815.2 MB
EGAF00001753707 cram 674.6 MB
EGAF00001753708 cram 1.0 GB
EGAF00001753709 cram 1.2 GB
EGAF00001753710 cram 1.2 GB
EGAF00001753711 cram 1.1 GB
EGAF00001753712 cram 998.5 MB
EGAF00001753713 cram 898.7 MB
EGAF00001753714 cram 816.0 MB
EGAF00001753715 cram 675.4 MB
EGAF00001753716 cram 1.0 GB
EGAF00001753717 cram 1.2 GB
EGAF00001753718 cram 1.2 GB
EGAF00001753719 cram 1.1 GB
EGAF00001753720 cram 1.3 GB
EGAF00001753721 cram 1.3 GB
EGAF00001753722 cram 1.3 GB
EGAF00001753723 cram 1.1 GB
EGAF00001753724 cram 1.1 GB
EGAF00001753725 cram 1.2 GB
EGAF00001753726 cram 1.3 GB
EGAF00001753727 cram 1.3 GB
EGAF00001753728 cram 1.3 GB
EGAF00001753729 cram 1.2 GB
EGAF00001753730 cram 1.1 GB
EGAF00001753731 cram 1.1 GB
EGAF00001753732 cram 1.2 GB
EGAF00001753733 cram 1.3 GB
62 Files (83.2 GB)