The Phenotypic Spectrum of COL4A3 Heterozygotes

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INTRODUCTION: The penetrance and phenotypic spectrum of autosomal dominant Alport Syndrome (ADAS), affecting 1 in 106, remains understudied. METHODS: Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we...

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Detalles Bibliográficos
Autores principales: Solanki, Kaushal V., Hu, Yirui, Moore, Bryn S., Abedi, Vida, Avula, Venkatesh, Mirshahi, Tooraj, Strande, Natasha T., Bucaloiu, Ion D., Chang, Alexander R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577321/
https://www.ncbi.nlm.nih.gov/pubmed/37849993
http://dx.doi.org/10.1016/j.ekir.2023.07.010
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