Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.A358T
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CLCN5

NM_001127898.4:p.A358T

Associated Papers

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

Bogdanović R et al.

Pediatric Nephrology (berlin, Germany), 2010

Novel mutations of the CLCN5 gene including a complex allele and A 5' UTR mutation in Dent disease 1.

Tosetto E et al.

Clinical Genetics, 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."