Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.K689E
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CLCN7

NM_001287.6:p.K689E

Associated Papers

The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.

Zifarelli G

Cells, 2022

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Del Fattore A et al.

Journal of Medical Genetics, 2006

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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."