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TTC21B
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Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report
2021 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene
2019 |
First Faculty of Medicine