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1 Ergebnisse
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Functional analysis of a novel nonsense variant c.91A>T of ..:
Guiyu Lou
;
Yuanyin Zhao
;
Huiru Zhao
...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1216592/full. , 2023
Link:
https://doi.org/10.3389/fgene.2023.1216592
RT Journal T1 <Title>Functional analysis of a novel nonsense variant c.91A>T of the TRAPPC2 gene in a Chinese family with X-linked recessive autosomal spondyloepiphyseal dysplasia tarda</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:b17e5cbbf7b64521b2b0f00863329645&Exemplar=1&LAN=DE A1 Guiyu Lou A1 Yuanyin Zhao A1 Huiru Zhao A1 Yuwei Zhang A1 Bingtao Hao A1 Litao Qin A1 Hongyan Liu A1 Shixiu Liao PB Frontiers Media S.A. YR 2023 K1 X-linked spondyloepiphyseal dysplasia tarda K1 TRAPPC2 K1 COL2A1 K1 whole-exome sequencing K1 nonsense variant K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2023.1216592/full LK http://dx.doi.org/https://doi.org/10.3389/fgene.2023.1216592 DO https://doi.org/10.3389/fgene.2023.1216592 SF ELIB - SuUB Bremen
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