Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.P743S
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CLCN7

NM_001287.6:p.P743S

Associated Papers

Novel De Novo CLCN7 Mutation in Refractory Osteopetrosis-Related Osteomyelitis: A Case Report and Multidisciplinary Therapeutic Dilemmas.

Zhang YW et al.

Journal of Stomatology, Oral and Maxillofacial Surgery, 2025

Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.

Zhang X et al.

Postgraduate Medicine, 2017

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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."