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Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient
Objective: This study aimed to investigate the clinical and molecular biology of a patient with a type of diabetes mellitus caused by a mutation in the POC1A (OMIM number: 614783) gene and explore its pathogenesis and related characteristics. Methods: The patient was interviewed about his medical hi...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086226/ https://www.ncbi.nlm.nih.gov/pubmed/37056285 http://dx.doi.org/10.3389/fgene.2023.1113314 |