Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.G464V
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SLC12A1

NM_000338.3:p.G464V

Associated Papers

Intronic variants impacting SLC12A1 gene splicing in Bartter syndrome type 1: Characterization of a novel deep intronic variant via Whole-genome sequencing and minigene analysis.

Wang Y et al.

Gene, 2025

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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."