Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8A
Variant:p.R545H
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LRRC8A

NM_019594.4:p.R545H

Associated Papers

A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.

Chetta M et al.

Computational and Structural Biotechnology Journal, 2024

Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice.

Bao J et al.

Jci Insight, 2018

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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."