Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
Alice Costantini,Jessica J. Alm,Francesca Tonelli,Helena Valta,Céline Huber,Anh N. Tran,Valentina Daponte,Nadi Kirova,Yong-Uk Kwon,Jung Yun Bae, Woo Yeong Chung,Shengjiang Tan,Yves Sznajer,Gen Nishimura,Tuomas Näreoja,Alan J. Warren,Valérie Cormier-Daire,Ok-Hwa Kim,Antonella Forlino,Tae-Joon Cho,Outi Mäkitie Bone Reports(2020)
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