Associated Papers
Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.
Huang Y et al.
Translational Pediatrics, 2024
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
35864128 (PubMed )
Supplement: 41598_2022_16661_MOESM1_ESM.xlsx › variant_list
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
34593925 (PubMed )
Supplement: 41598_2021_99007_MOESM1_ESM.xlsx › Table_S1
Identification of a Homozygous PEX26 Mutation in a Heimler Syndrome Patient.
Kim YJ et al.
Genes, 2021
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