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Visual inspection reveals a novel pathogenic mutation in PKD1 missed by the variant caller in whole-exome sequencing

Autosomal dominant polycystic kidney disease (ADPKD) is the most common type of inherited cystic kidney disease. The feasibility of whole-exome sequencing (WES) to obtain molecular diagnosis of ADPKD is still in question as previous studies showed conflicting results. Utilizing WES on a patient with...

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Detalles Bibliográficos
Autores principales:	Koay, Bee Tee, Chiow, Mei Yee, Ismail, Jamiila, Fahmy, Norfarhana Khairul, Yee, Seow Yeing, Mustafa, Norhazlin, Arip, Masita, Ripen, Adiratna Mat, Mohamad, Saharuddin Bin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2022
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644422/ https://www.ncbi.nlm.nih.gov/pubmed/36281931 http://dx.doi.org/10.3892/mmr.2022.12882

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