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Resource:Allelic Variations of The XP Genes

Name: Resource:Allelic Variations of The XP Genes
Description: Interactive repository of mutations and other allelic variations of the genes involved in the DNA repair disorders, Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS), Trichothiodystrophy (TTD), and other UV-sensitivity disorders. Any omitted data or new data may be submitted by using the on-line data submission form. There is a message board system to support discussions amongst those interested in XP and DNA Repair.

RESOURCES

  • Educational module of the molecular biology of Nucleotide Excision Repair
  • Introduction to the DNA Repair disorders (XP, CS, TTD, UVs)
  • Background on each of the XP genes
  • A searchable database of mutations and sequence variations for the XP genes
  • Contact point for the submission of new mutation data
  • Discussion Forums and a Guest Book
  • Web Links to Additional Resources
Other Name(s): xpmutations.org
Abbreviation: Allelic Variations of the XP Genes
Parent Organization: University of California at San Francisco; California; USA
Supporting Agency: Xeroderma Pigmentosum Society
Grant: CN-156, ES08061, R01 ES06460, R25 RR12242, W-7405-ENG-48
Resource Type(s): Database, Data repository
Resource: Resource
URL: http://www.xpmutations.org
*Id: nif-0000-32042
PMID: PMID 10447254
Related condition/disease: DNA repair disorder, Xeroderma Pigmentosum, Cockayne Syndrome, Trichothiodystrophy, UV-sensitivity disorder
Availability: The community can contribute to this resource.
Address: Professor of Dermatology & Pharmaceutical Chemistry Box 0808, Room N431, UCSF Cancer Center, University of California, San Francisco, CA, 94143-0808 phone 415-476-4563 fax 415-476-8218
Keywords: Nucleotide Excision Repair, DNA, excision, function, gene, allele, cell, sensitivity, trichothiodystrophy, ultra violet, variation, xeroderma pigmentosum, pigment, mutation, allelic variation, DNA repair
Organism: Human
Link to OWL / RDF: Download this content as OWL/RDF

Curation status: Uncurated

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Notes

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Contributors

Aarnaud, Akash, Bandrow, Ccdbuser, Nifbot2



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*Note: Neurolex imports many terms and their ids from existing community ontologies, e.g., the Gene Ontology. Neurolex, however, is a dynamic site and any content beyond the identifier should not be presumed to reflect the content or views of the source ontology. Users should consult with the authoritative source for each ontology for current information.

Facts about Resource:Allelic Variations of The XP GenesRDF feed
AbbrevAllelic Variations of the XP Genes  +
AddressProfessor of Dermatology & Pharmaceutical Chemistry Box 0808  +, Room N431  +, UCSF Cancer Center  +, University of California  +, San Francisco  +, CA  +, and 94143-0808 phone 415-476-4563 fax 415-476-8218  +
AvailabilityThe community can contribute to this resource.  +
CurationStatuscurated  +
DefiningCitationhttp://www.xpmutations.org  +
DefinitionInteractive repository of mutations and ot Interactive repository of mutations and other allelic variations of the genes involved in the DNA repair disorders, Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS), Trichothiodystrophy (TTD), and other UV-sensitivity disorders. Any omitted data or new data may be submitted by using the on-line data submission form. There is a message board system to support discussions amongst those interested in XP and DNA Repair.

RESOURCES

  • Educational module of the molecular biology of Nucleotide Excision Repair
  • Introduction to the DNA Repair disorders (XP, CS, TTD, UVs)
  • Background on each of the XP genes
  • A searchable database of mutations and sequence variations for the XP genes
  • Contact point for the submission of new mutation data
  • Discussion Forums and a Guest Book
  • Web Links to Additional Resources Book
  • Web Links to Additional Resources
ExampleImageAllelic Variations of the XP Genes.PNG  +
GrantCategory:CN-156   +, Category:ES08061   +, Category:R01 ES06460   +, Category:R25 RR12242   +, and Category:W-7405-ENG-48   +
Has default formThis property is a special property in this wiki.Resource  +
Has roleDatabase  +, and Data repository  +
Idnif-0000-32042  +
Is part ofUniversity of California at San Francisco; California; USA  +
KeywordsNucleotide Excision Repair  +, DNA  +, Excision  +, Function  +, Gene  +, Allele  +, Cell  +, Sensitivity  +, Trichothiodystrophy  +, Ultra violet  +, Variation  +, Xeroderma pigmentosum  +, Pigment  +, Mutation  +, Allelic variation  +, and DNA repair  +
LabelResource:Allelic Variations of The XP Genes  +
ModifiedDate9 April 2013  +
PMID10447254  +
Page has default formThis property is a special property in this wiki.Resource  +
Related diseaseDNA repair disorder  +, Xeroderma Pigmentosum  +, Cockayne Syndrome  +, Trichothiodystrophy  +, and UV-sensitivity disorder  +
SpeciesHuman  +
SuperCategoryResource  +
Supporting AgencyXeroderma Pigmentosum Society  +
Synonymxpmutations.org  +