Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.V166L
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CLCNKB

NM_000085.5:p.V166L

Associated Papers

Characterization of the mouse ClC-K1/Barttin chloride channel.

L'Hoste S et al.

Biochimica Et Biophysica Acta, 2013

Gitelman's syndrome: towards genotype-phenotype correlations?

Riveira-Munoz E et al.

Pediatric Nephrology (berlin, Germany), 2007

Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.

Tajima T et al.

Endocrine Journal, 2002

The molecular genetic approach to "Bartter's syndrome".

Károlyi L et al.

Journal of Molecular Medicine (berlin, Germany), 1998

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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."