Whole exome sequencing reveals concurrent mutations accounting for a combined phenotype of karyomegalic interstitial nephritis and an autosomal recessive polycystic kidney disease in an Omani child: A case report
| Autor: | Intisar Al Alawi, Maryam AlShehhi, Mohammed S Al Riyami, Naifain Al Kalbani, Aliya Al Hosni, Ashwaq Al Mimani, Issa Al Salmi, John A. Sayer |
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| Rok vydání: | 2023 |
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| Zdroj: | Oman Medical Journal. |
| ISSN: | 2070-5204 1999-768X |
| DOI: | 10.5001/omj.2024.34 |
| Databáze: | OpenAIRE |
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