Associated Papers
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E et al.
American Journal of Medical Genetics. Part A, 2024
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Wesdorp M et al.
American Journal of Human Genetics, 2018
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