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Investigating the Structural Impact and Conformational Dynamics of a Sequence Variant (c.242G>A) in <i>TMIE</i> Gene Provoking Usher Syndrome

2024-04-03

Abstract excerpt

Usher syndrome (USH) is a retinal autosomal recessive genetic disorder, characterized by congenital severe-to-profound sensorineural hearing loss, retinitis pigmentosa (RP), and rarely vestibular dysfunction. A transmembrane inner ear gene TMIE causing autosomal recessive usher syndrome hearing loss, which may open up interesting perspectives into the function of this protein in inner ear. This disease is linked w...

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Literature Corpus work
e30c4e48-6e01-580e-a7e9-3e98613b935e
DOI
10.1101/2024.04.02.587802
Open publication

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Investigating the Structural Impact and Conformational Dynamics of a Sequence Variant (c.242G>A) in <i>TMIE</i> Gene Provoking Usher SyndromeDOI 10.1101/2024.04.02.587802
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