Causal Variants of the GJB6 Gene are Associated with Hearing Loss and Skin Manifestations: A Case Report from Turkey
Introduction:. The gap junction beta 6 (GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions. Disease-associated variants of GJB6 cause non-syndromic hearing loss (HL) a...
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| Main Authors: | , , , , |
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| Format: | Book |
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Wolters Kluwer Health,
2022-09-01T00:00:00Z.
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |