Patent AT-E399860-T1: [Translated] MUTATION WITHIN THE CONNEXIN 26 GENE AND RELATION TO PRELINGUAL SYNDROMELESS DEAFNESS AND DETECTION METHODS
A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.
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Complete Metadata
| @type | dcat:Dataset |
|---|---|
| accessLevel | public |
| bureauCode |
[ "009:25" ] |
| contactPoint |
{ "fn": "NIH/NCBI Data Team", "@type": "vcard:Contact", "hasEmail": "mailto:info@ncbi.nlm.nih.gov" } |
| description | A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide. |
| distribution |
[ { "@type": "dcat:Distribution", "title": "Official Data Source", "mediaType": "text/html", "description": "Access the complete Patent AT-E399860-T1: [Translated] MUTATION WITHIN THE CONNEXIN 26 GENE AND RELATION TO PRELINGUAL SYNDROMELESS DEAFNESS AND DETECTION METHODS on the official website.", "downloadURL": "https://pubchem.ncbi.nlm.nih.gov/patent/AT-E399860-T1" } ] |
| identifier | https://healthdata.gov/api/views/6qwr-me8n |
| issued | 2025-09-05 |
| keyword |
[ "chemistry", "innovation", "patent", "pubchem", "research" ] |
| landingPage | https://healthdata.gov/d/6qwr-me8n |
| modified | 2025-09-06 |
| programCode |
[ "009:066" ] |
| publisher |
{ "name": "National Center for Biotechnology Information (NCBI)", "@type": "org:Organization" } |
| theme |
[ "NIH" ] |
| title | Patent AT-E399860-T1: [Translated] MUTATION WITHIN THE CONNEXIN 26 GENE AND RELATION TO PRELINGUAL SYNDROMELESS DEAFNESS AND DETECTION METHODS |
