Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.A498V
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CLCNKB

NM_000085.5:p.A498V

Associated Papers

Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.

Peces R et al.

Clinical Kidney Journal, 2021

34345425 (PubMed )
Supplement: sfab083_supplementary_data.zip › Supplementary_material.docx
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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."