Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.F758L
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CLCN7

NM_001287.6:p.F758L

Associated Papers

Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants.

Arunachalam AK et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

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

Zifarelli G

Cells, 2022

Molecular insights into the human CLC-7/Ostm1 transporter.

Zhang S et al.

Science Advances, 2020

A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis.

Peng H et al.

Frontiers in Cell and Developmental Biology, 2020

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Pangrazio A et al.

Human Mutation, 2010

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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."