Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.S290Y
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CLCN7

NM_001287.6:p.S290Y

Associated Papers

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

Zifarelli G

Cells, 2022

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

Peng H et al.

Frontiers in Cell and Developmental Biology, 2020

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

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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."