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A missense mutation in DDRGK1 gene associated to Shohat‐typ..:
Franceschi, Roberto
;
Iascone, Maria
;
Maitz, Silvia
...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2434-2437 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62857
RT Journal T1 <Title>A missense mutation in DDRGK1 gene associated to Shohat‐type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62857&Exemplar=1&LAN=DE A1 Franceschi, Roberto A1 Iascone, Maria A1 Maitz, Silvia A1 Marchetti, Daniela A1 Mariani, Milena A1 Selicorni, Angelo A1 Soffiati, Massimo A1 Maines, Evelina PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 8 SP 2434 OP 2437 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62857 DO https://doi.org/10.1002/ajmg.a.62857 SF ELIB - SuUB Bremen
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