A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family
BackgroundHereditary hearing loss demonstrates significant genetic heterogeneity, involving diverse genes and variation types. Autosomal dominant forms present particular challenges in variant interpretation due to variable expressivity.ObjectivesThis study aimed to clinically and molecularly charac...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2026-02-01
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| سلاسل: | Frontiers in Neurology |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fneur.2026.1752843/full |
| الوسوم: |
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