Associated Papers
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_S5
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
Moon IS et al.
Frontiers in Genetics, 2021
Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.
Dietz S et al.
Oncotarget, 2017
29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_3_-_Progress
Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss.
Charif M et al.
Biochemical and Biophysical Research Communications, 2012
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
Hutchin T et al.
Clinical Genetics, 2005
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
Blair E et al.
Journal of Medical Genetics, 2001
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