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1 Ergebnisse
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A novel PHKA2 variant in a Chinese boy with glycogen storag..:
Hongdan Zhu
;
Tao Zhang
;
Hua Yuan
...
https://www.frontiersin.org/articles/10.3389/fendo.2023.1332450/full. , 2023
Link:
https://doi.org/10.3389/fendo.2023.1332450
RT Journal T1 <Title>A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:78b8ca085602452abead12433858a087&Exemplar=1&LAN=DE A1 Hongdan Zhu A1 Tao Zhang A1 Hua Yuan A1 Yan Chen A1 Jinlong Ding A1 Haigang Ding A1 Xiaoliang Shi A1 Dalei Gu A1 Yingying Ma PB Frontiers Media S.A. YR 2023 K1 glycogen storage disease K1 X-chromosome recessive genetic diseases K1 PHKA2 gene K1 whole exome sequencing K1 3D structure K1 Diseases of the endocrine glands. Clinical endocrinology K1 RC648-665 JF https://www.frontiersin.org/articles/10.3389/fendo.2023.1332450/full LK http://dx.doi.org/https://doi.org/10.3389/fendo.2023.1332450 DO https://doi.org/10.3389/fendo.2023.1332450 SF ELIB - SuUB Bremen
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