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URL: https://www.ucl.ac.uk/ncl-disease/mutation-and-patient-database
Proper Citation: Mutation and Patient Database (RRID:SCR_018806)
Description: Collection of published mutations and sequence variations in genes that cause Neuronal Ceroid Lipofuscinoses together with unpublished data included with permission. There are two tables for each human NCL disease gene - Patient Datasheets list all published or reported patients and families, and Mutation Datasheets list all published or reported mutations, cross-referenced to patient table. Datasheets are available to view or download as excel files for off-site use to aid local needs or interests. Database follows mutation nomenclature recommendations of Human Genome Variation Society.
Synonyms: NCL Mutation Database, NCL Mutation and Patient Database
Resource Type: data or information resource, data set, database
Keywords: Mutation, gene mutation, sequence variations, gene, human NCL disease gene, patient datasheet, mutation datasheet, mutation nomenclature, human genome variation society, data
Related Condition: Neuronal Ceroid Lipofuscinoses, NCL, Batten disease
Availability: Free, Freely available
Resource Name: Mutation and Patient Database
Resource ID: SCR_018806
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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
