GeneticsGenetics in MedicinePeer-reviewed
Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen, Andrea M. Oza, Ignacio del Castillo…·Lisa A. Schimmenti
The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.
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