NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination
| Title: | NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination |
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| Authors: | Ijaz, Ambreen, Alfadhli, Fatima, Alharbi, Azizah, Khan, Yasir Naseem, Alhawas, Yasser Khaled, Hashmi, Jamil A., Wali, Abdul, Basit, Sulman |
| Source: | In European Journal of Medical Genetics October 2022 65(10) |
| Database: | ScienceDirect |
| ISSN: | 17697212 |
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| DOI: | 10.1016/j.ejmg.2022.104578 |
| Published in: | European Journal of Medical Genetics |
| Language: | English |