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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRRC8C

Variant:p.V390L

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LRRC8C

NM_032270.5:p.V390L

hg38:chr1:89713738 G>C

Associated Papers

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder.

Quinodoz M et al.

The Embo Journal, 2025

39623139 (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."