Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.C308*
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KCNJ1

NM_000220.6:p.C308*

Associated Papers

Genetic diagnosis and renal biopsy findings in the setting of a renal genetics clinic.

Ben Moshe Y et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.

Bekheirnia N et al.

Kidney360, 2021

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

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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."