Varaico: Literature-Extracted Genetic Variants

Gene:LGR4
Variant:p.L206Splc
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LGR4

NM_018490.5:p.L206Splc

Associated Papers

Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.

Wang R et al.

Briefings in Bioinformatics, 2023

Loss of LGR4/GPR48 causes severe neonatal salt wasting due to disrupted WNT signaling altering adrenal zonation.

Lucas C et al.

The Journal of Clinical Investigation, 2023

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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."