Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.V204I
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SLC12A1

NM_000338.3:p.V204I

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."