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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN3

Variant:p.L224R

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CLCN3

NM_001829.4:p.L224R

hg38:chr4:169690594 T>G

Associated Papers

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

Zifarelli G

Cells, 2022

35159175 (PubMed )

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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."