Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.W319R
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CLCN7

NM_001287.6:p.W319R

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

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.

Pang Q et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2016

Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II.

Zheng H et al.

Joint Bone Spine, 2014

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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."