Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8C
Variant:p.W340*
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LRRC8C

NM_032270.5:p.W340*

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 )
Supplement: 44318_2024_322_MOESM3_ESM.pdf
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