The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes

Ana Rita Lameiras, Ana Cláudia Gonçalves, Ricardo Santos, Assunção O'Neill, Luís Roque dos Reis, Tiago Daniel Matos, Graça Fialho, Helena Caria, Pedro Escada

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Medicine & Life Sciences