Varaico: Literature-Extracted Genetic Variants

Gene:ALG9
Variant:p.R143*
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ALG9

NM_024740.2:p.R143*

Associated Papers

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes.

Schönauer R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Besse W et al.

Journal of the American Society of Nephrology : Jasn, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."