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Medientyp
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Autor/in
- Shukla, Anju
- Bayram, Yavuz 1
- Bhavani, Gandham SriLakshmi 1
- Bierhals, Tatjana 1
- Coban Akdemir, Zeynep 1
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Sprache
- Englisch 2
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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
- Girisha, Katta M
- von Elsner, Leonie
- Neethukrishna, Kausthubham
- Muranjan, Mamta
- Shukla, Anju
- Bhavani, Gandham SriLakshmi
- Nishimura, Gen