Varaico: Literature-Extracted Genetic Variants

Gene:BSND
Variant:p.E88*
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BSND

NM_057176.3:p.E88*

Associated Papers

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption.

Pérez-Rius C et al.

The Journal of Physiology, 2019

Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.

Wojciechowski D et al.

The Journal of Biological Chemistry, 2018

Bartter syndrome: causes, diagnosis, and treatment.

Cunha TDS et al.

International Journal of Nephrology and Renovascular Disease, 2018

Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.

Barrallo-Gimeno A et al.

The Journal of Physiology, 2015

Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.

Steinke KV et al.

The Journal of Biological Chemistry, 2015

Cell biology and physiology of CLC chloride channels and transporters.

Stauber T et al.

Comprehensive Physiology, 2012

Physiology and pathophysiology of ClC-K/barttin channels.

Fahlke C et al.

Frontiers in Physiology, 2010

Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.

Bircan Z et al.

Pediatric Nephrology (berlin, Germany), 2009

Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

Janssen AG et al.

Journal of the American Society of Nephrology : Jasn, 2009

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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."