The USH1C mutations database
>>> !!! the repository is offline !!! The current successor is https://www.lovd.nl/USH1C. <<< The database contains all the variants published as pathogenic mutations in the international literature up to November 2007. In addition, unpublished Usher mutations and non-pathogenic variants from the laboratory of Montpellier have been included.
Description
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>>> !!! the repository is offline !!! The current successor is https://www.lovd.nl/USH1C. <<< The database contains all the variants published as pathogenic mutations in the international literature up to November 2007. In addition, unpublished Usher mutations and non-pathogenic variants from the laboratory of Montpellier have been included.
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
Webpage:
http://www.umd.be/USH1C/Webpage
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http://www.umd.be/USH1C/
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
Licence:
Name: CopyrightsLicence name
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Copyrights
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
Licence URL
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http://www.umd.be/USH1C/gene.shtml
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
Tags:
Tags
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deafness
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
gene
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
phenotype-genotype
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
polymorphism
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
protein
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
rare deseases
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
retinitis pigmentosa
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
usher syndrome
metasource: re3data.org
version: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
Tags
More detailed information about this field from each metasource.
deafness
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
gene
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
phenotype-genotype
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
polymorphism
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
protein
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
rare deseases
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
retinitis pigmentosa
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
usher syndrome
metasource: re3data.orgversion: re3data.org: The USH1C mutations database; editing status 2021-09-06; re3data.org - Registry of Research Data Repositories. http://doi.org/10.17616/R3Z65F last accessed: 2022-11-04
deafness gene phenotype-genotype polymorphism protein rare deseases retinitis pigmentosa usher syndrome
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