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A novel pathogenic variant at the C‐terminal propeptide cle..:
Lang, Steven H.
;
Gallo, Ryan A.
;
Forghani, Irman
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1885-1889 , 2022
Link:
https://doi.org/10.1002/ajmg.a.62712
RT Journal T1 <Title>A novel pathogenic variant at the C‐terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62712&Exemplar=1&LAN=DE A1 Lang, Steven H. A1 Gallo, Ryan A. A1 Forghani, Irman PB Wiley YR 2022 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 6 SP 1885 OP 1889 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62712 DO https://doi.org/10.1002/ajmg.a.62712 SF ELIB - SuUB Bremen
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