Associated Papers
[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].
Wang Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S9
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E et al.
Audiology & Neuro-otology, 2023
Variant analysis of 92 Chinese Han families with hearing loss.
Jin X et al.
Bmc Medical Genomics, 2022
[Mutational analysis and prenatal diagnosis of TMPRSS3 gene in two Chinese families affected with deafness].
Ren SM et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing.
Elander J et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 0
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