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1 Ergebnisse
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First case report of complete paternal isodisomy of chromos..:
Yao Wang
;
Dong Yu
;
Wei Wei
...
https://doi.org/10.1186/s12920-022-01285-x. , 2022
Link:
https://doi.org/10.1186/s12920-022-01285-x
RT Journal T1
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:52118466108a4104bf7d32ee14a1298f&Exemplar=1&LAN=DE A1 Yao Wang A1 Dong Yu A1 Wei Wei A1 Hao Zheng A1 Ming-Hua Liu A1 Long Ma A1 Li-Na Qin A1 Neng-Zhuang Wang A1 Jia-Xi Li A1 Jin-Jiang Wang A1 Xin-Ling Bi A1 Hong-Li Yan PB BMC YR 2022 K1 Junctional epidermolysis bullosa intermediate K1 COL17A1 K1 Paternal uniparental disomy K1 Whole exome sequencing K1 Genetic counselling K1 Case report K1 Internal medicine K1 RC31-1245 K1 Genetics K1 QH426-470 JF https://doi.org/10.1186/s12920-022-01285-x LK http://dx.doi.org/https://doi.org/10.1186/s12920-022-01285-x DO https://doi.org/10.1186/s12920-022-01285-x SF ELIB - SuUB Bremen
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