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Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

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Smith CEL, Laugel-Haushalter V, Hany U The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, et al
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability