Varaico: Literature-Extracted Genetic Variants

Gene:CASK
Variant:p.Q574insFs
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CASK

NM_001367721.1:p.Q574insFs

Associated Papers

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

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Meng L et al.

Jama Pediatrics, 2017

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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."