http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-109402132-B

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classificationCPCAdditional http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
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classificationIPCInventive http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-02
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filingDate 2018-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
grantDate 2021-08-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2021-08-13-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber CN-109402132-B
titleOfInvention Nucleic acid for coding SCN1A gene mutant and application thereof
abstract The invention discloses a nucleic acid for coding an SCN1A gene mutant and application thereof, belonging to the technical field of genetic engineering. The mutant has a c.79_82del hybrid mutation compared to the wild type, and the amino acid sequence of the encoded polypeptide has the p.arg27alafs × 64 mutation. By detecting whether the new mutant exists or not, a biological sample susceptible to SCN1A related epilepsy can be effectively screened. The detection method is rapid, accurate and efficient.
priorityDate 2018-11-29-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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