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BSCL2-seipinopathies variation databases - curated by the neurogenetics and metabolic-thyroid disease groups, Instituto de Investigaciones Sanitarias de Santiago de Compostela (IDIS-SERGAS), Spain.
This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
||Berardinelli-Seip congenital lipodystrophy 2 (seipin)|
|Associated with diseases
||CGL-2, HMN-5A, PELD, SPG-17|
||Genomic reference sequence|
||María-Jesús Sobrido and Sergio Piñeiro|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
||This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).|
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. We are in the process of joining efforts and merging the two databases.
||May 23, 2012|
|Date last updated
||October 12, 2014|
|Links to other resources|
Inherited Peripheral Neuropathies Mutation Database
|OMIM - Gene
|OMIM - Diseases
||CGL-2 (lipodystrophy, congenital generalized, type 2 (CGL-2))|
HMN-5A (neuropathy, motor, distal, hereditary, type Va (HMN-5A))
PELD (encephalopathy, progressive, with or without lipodystrophy (PELD))
SPG-17 (paraplegia, spastic, autosomal dominant, type 17 (SPG-17, Silver))
|Copyright & disclaimer|
|The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.|
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