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
Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.
Yu X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Santos RL et al.
Human Mutation, 2005
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