Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.Y99N
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CLCN7

NM_001287.6:p.Y99N

Associated Papers

Fractures are Highly Correlated with Bone Density and Inversely Correlated with Bone Turnover Markers in Autosomal Dominant Osteopetrosis.

Econs MJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.

Polgreen LE et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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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."