Varaico: Literature-Extracted Genetic Variants

Gene:CLCN7
Variant:p.G292E
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CLCN7

NM_001287.6:p.G292E

Associated Papers

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis.

Wang X et al.

Frontiers in Pediatrics, 2023

Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.

Rössler U et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis.

Hennig AF et al.

Stem Cell Research, 2019

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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."