Associated Papers
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
Caengprasath N et al.
Journal of Dermatological Science, 2023
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31160754 (PubMed )
Supplement: NIHMS1586971-supplement-Supplementary___Appendix__online_only_material__etc__.docx
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
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