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1 Ergebnisse
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Case report: Fatal infantile hypertonic myofibrillar myopat..:
Shan-shan Zhang
;
Li-niu Gu
;
Teng Zhang
...
https://www.frontiersin.org/articles/10.3389/fped.2022.993165/full. , 2023
Link:
https://doi.org/10.3389/fped.2022.993165
RT Journal T1 <Title>Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:8f9ae7a2bf4a417e89d61b82c0deb2fc&Exemplar=1&LAN=DE A1 Shan-shan Zhang A1 Li-niu Gu A1 Teng Zhang A1 Lu Xu A1 Xiang Wei A1 Su-hong Chen A1 Su-jie Shi A1 Da-quan Sun A1 Shao-hong Zhou A1 Qian-ye Zhao PB Frontiers Media S.A. YR 2023 K1 CRYAB K1 fatal infantile hypertonic myofibrillar myopathy K1 gene K1 mutation K1 whole exome sequencing K1 Pediatrics K1 RJ1-570 JF https://www.frontiersin.org/articles/10.3389/fped.2022.993165/full LK http://dx.doi.org/https://doi.org/10.3389/fped.2022.993165 DO https://doi.org/10.3389/fped.2022.993165 SF ELIB - SuUB Bremen
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