A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss
Abstract Background This study aims to analyze the pathogenic gene in a Chinese family with non-syndromic hearing loss and identify a novel mutation site in the TNC gene. Methods A five-generation Chinese family from Anhui Province, presenting with autosomal dominant non-syndromic hearing loss, was...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
BMC,
2024-07-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |