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The Phenotypic Spectrum of COL4A3 Heterozygotes

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Most data on Alport Syndrome (AS) due to COL4A3 are limited to families with autosomal recessive AS or severe manifestations such as focal segmental glomerulosclerosis (FSGS). Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with...

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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:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10168410/ https://www.ncbi.nlm.nih.gov/pubmed/37163122 http://dx.doi.org/10.1101/2023.04.11.23288298

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