A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report
Abstract Background Usher syndrome (USH) is the most common cause of inherited deaf-blindness. The current study aimed to identify pathogenic variants in a Chinese patient with hearing loss and to report the identification of a novel p.(Phe1583Leufs*10) variant in USH2A, which met the needs of prena...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2021-08-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |