Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non‐syndromic deafness - Lu - 2018 - Clinical Genetics - Wiley Online Library
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Downsloping High-Frequency Hearing Loss Due to Inner Ear Tricellular Tight Junction Disruption by a Novel ILDR1 Mutation in the Ig-Like Domain | PLOS ONE
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Autosomal Recessive Alport Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
