PropertyValue
?:definition
  • Molecular assay reagents intended to identify ATTCT repeats in the ataxin 10 (ATXN10) gene, located at chromosome 22q13. Normal alleles have from 10 to 29 ATTCT pentanucleotide repeats. A variation from the expected number of normal ATTCT trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 800 to 4,500 ATTCT pentanucleotide repeats are present in patients with spinocerebellar ataxia type 10 (SCA10), a slowly progressive cerebellar ataxia. The repeats are also associated with seizures, peripheral neuropathy, and behavioral disturbances.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C3689534_UMD>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C3689534_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all