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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KAT6B

Variant:p.R1254Fs

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KAT6B

NM_012330.4:p.R1254Fs

hg38:chr10:75028585 GC>G

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

35368817 (PubMed )

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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."