Associated Papers
[Genotype and phenotype characteristics of DFNB67 hearing loss patients with LHFPL5 variants].
Zhang J et al.
Zhonghua Yi Xue Za Zhi, 2025
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_S6
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
Liaqat K et al.
Journal of Human Genetics, 2018
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