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Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia
2020
Alice Costantini
Jessica J. Alm
Francesca Tonelli
Helena Valta
Céline Huber
Anh-Nhi 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
Valerie Cormier Daire
Ok Hwa Kim
Antonella Forlino
Tae-Joon Cho
Outi Mäkitie
Keywords:
Genetics
Penetrance
Ribosomopathy
Medicine
Spondyloepimetaphyseal dysplasia
Correction
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