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Medientyp
- Text 1
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Erscheinungsjahr
- 2019 1
Autor/in
- Bhavani, Gandham SriLakshmi
- Girisha, Katta M 1
- Kutsche, Kerstin 1
- Mortier, Geert 1
- Muranjan, Mamta
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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