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1 Ergebnisse
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A novel homozygous HES7 splicing variant causing spondyloco..:
Shaoguang Lv
;
Yuanyuan Wu
;
Fang Liu
.
https://www.frontiersin.org/articles/10.3389/fped.2023.1201999/full. , 2023
Link:
https://doi.org/10.3389/fped.2023.1201999
RT Journal T1 <Title>A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:1f7a1b3a8223414d9a5e45c27d89a953&Exemplar=1&LAN=DE A1 Shaoguang Lv A1 Yuanyuan Wu A1 Fang Liu A1 Baoquan Jiao PB Frontiers Media S.A. YR 2023 K1 spondylocostal dysostosis 4 (SCDO4) K1 HES7 gene K1 alternative splicing mutation K1 minigene analysis K1 case report K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/articles/10.3389/fped.2023.1201999/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2023.1201999 DO https://doi.org/10.3389/fped.2023.1201999 SF ELIB - SuUB Bremen
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