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URL: http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL
Proper Citation: Lowes Syndrome Mutation Database (RRID:SCR_002907)
Description: The Lowe Syndrome Mutation Database is now being maintained by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health. A database of mutations causing Lowe syndrome. Information on new mutations may be submitted online. Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105-kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5-phosphatase activity. genetics
Synonyms: Lowe Syndrome Mutation Database
Resource Type: data or information resource, data repository, database, service resource, storage service resource
Keywords: mutation
Related Condition: Lowe syndrome
Funding: NHGRI
Availability: THIS RESOURCE IS NO LONGER IN SERVICE
Resource Name: Lowes Syndrome Mutation Database
Resource ID: SCR_002907
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Source: SciCrunch Registry (RRID:SCR_005400)
Description: Interactive portal for finding and submitting biomedical resources. Resources within SciCrunch have assigned RRIDs which are used to cite resources in scientific manuscripts. SciCrunch Registry, formerly NIF Registry, provides resources catalog. Allows to add new resources. Allows edit existing resources after registration. Curators are tasked with identifying and registering resources, examining data, writing configuration files to index and display data and keeping contents current.
URL: https://rrid.site/rin/sources/SCR_005400
