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1 Ergebnisse
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A Novel Homozygous Frameshift Mutation in CCN6 Causing Prog..:
Nagwa E. A. Gaboon
;
Asia Parveen
;
Ahmed El Beheiry
...
https://www.frontiersin.org/article/10.3389/fped.2019.00245/full. , 2019
Link:
https://doi.org/10.3389/fped.2019.00245
RT Journal T1
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:68002e01e2cd4893842baf47e5ee1667&Exemplar=1&LAN=DE A1 Nagwa E. A. Gaboon A1 Asia Parveen A1 Ahmed El Beheiry A1 Jumana Y. Al-Aama A1 Mosab S. Alsaedi A1 Naveed Wasif PB Frontiers Media S.A. YR 2019 K1 progressive pseudorheumatoid dysplasia (PPRD) K1 consanguinity K1 novel frameshift mutation K1 CCN6 K1 Nonsense Mediated Decay K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/article/10.3389/fped.2019.00245/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2019.00245 DO https://doi.org/10.3389/fped.2019.00245 SF ELIB - SuUB Bremen
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