Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512c>t P.(pro838ser)) Associated with DFNA6/14/38

Hedwig M. M. Velde, Xanne J. J. Huizenga,Helger G. G. Yntema,Lonneke Haer-Wigman,Andy J. J. Beynon,Jaap Oostrik,Sjoert A. H. Pegge,Hannie Kremer,Cris P. P. Lanting,Ronald J. E. Pennings

Genes（2023）

引用 7|浏览40

关键词

hereditary hearing loss,WFS1,DFNA6,14,38,human genetics,autosomal dominant hearing loss,low-frequency sensorineural hearing loss,genotype,phenotype,likely pathogenic variant

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