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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN3

Variant:p.E282A

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CLCN3

NM_001829.4:p.E282A

hg38:chr4:169692229 A>C

Associated Papers

Endosomal chloride/proton exchangers need inhibitory TMEM9 β-subunits for regulation and prevention of disease-causing overactivity.

Planells-Cases R et al.

Nature Communications, 2025

40169677 (PubMed )

Structural basis of adenine nucleotides regulation and neurodegenerative pathology in ClC-3 exchanger.

Wan Y et al.

Nature Communications, 2024

39107281 (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."