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Paper Details

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
0
2023
-, Arg183His, Arg190Leu, RPL13, SEMD, Spondyloepimetaphyseal dysplasia, autosomal dominant disorder, c, c., c.477+, eL13, hip and knee deformities, mRNA, short stature, spondylar and epimetaphyseal dysplasia, spondylar- and epi-metaphyseal dysplasia, spondyloepimetaphyseal dysplasia
Author NameAffiliation
Anna HammarsjöKarolinska Institutet
Anna HammarsjöKarolinska University Hospital
Ann NordgrenKarolinska Institutet
Ann NordgrenKarolinska University Hospital
Ann NordgrenSahlgrenska University Hospital
Ann NordgrenInstitute of Biomedicine, University of Gothenburg
Gen NishimuraKarolinska Institutet
Gen NishimuraMusashino-Yowakai Hospital
Giedre GrigelionieneKarolinska Institutet
Giedre GrigelionieneKarolinska University Hospital
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