Varaico: Literature-Extracted Genetic Variants

Gene:COL4A5
Variant:p.P969R
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COL4A5

NM_033380.3:p.P969R

Associated Papers

Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Yao T et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2019

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.

Sen ES et al.

Journal of Medical Genetics, 2017

28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2015

COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Storey H et al.

Journal of the American Society of Nephrology : Jasn, 2013

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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."