Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.R373Splc
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ABCG5

NM_022436.3:p.R373Splc

Associated Papers

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

Lu K et al.

American Journal of Human Genetics, 2001

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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."