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Patent AT-E399860-T1: [Translated] MUTATION WITHIN THE CONNEXIN 26 GENE AND RELATION TO PRELINGUAL SYNDROMELESS DEAFNESS AND DETECTION METHODS

Published by National Center for Biotechnology Information (NCBI) | U.S. Department of Health & Human Services | Metadata Last Checked: September 07, 2025 | Last Modified: 2025-09-06
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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