Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.V289L
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CLCN7

NM_001287.6:p.V289L

Associated Papers

Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report.

Song XL et al.

World Journal of Clinical Cases, 2022

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

Zifarelli G

Cells, 2022

Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study.

Wang Z et al.

Frontiers in Endocrinology, 2022

Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

Zheng H et al.

Journal of Bone and Mineral Metabolism, 2016

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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."