Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.S42N
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BSND

NM_057176.3:p.S42N

Associated Papers

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Walsh PR et al.

Clinical Kidney Journal, 2018

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Ashton EJ et al.

Kidney International, 2018

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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."