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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Costantini, A (author)
Karolinska Institutet
Alm, JJ (author)
Karolinska Institutet
Tonelli, F (author)
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Valta, H (author)
Huber, C (author)
Tran, AN (author)
Daponte, V (author)
Kirova, N (author)
Kwon, YU (author)
Bae, JY (author)
Chung, WY (author)
Tan, SJ (author)
Sznajer, Y (author)
Nishimura, G (author)
Nareoja, T (author)
Warren, AJ (author)
Cormier-Daire, V (author)
Kim, OH (author)
Forlino, A (author)
Cho, TJ (author)
Makitie, O (author)
Karolinska Institutet
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 (creator_code:org_t)
2020-10-13
2021
English.
In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. - : Wiley. - 1523-4681. ; 36:2, s. 283-297
  • Journal article (peer-reviewed)
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