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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSAP

Variant:p.K303_K304Splc

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PSAP

NM_002778.4:p.K303_K304Splc

hg38:chr10:71821875 C>A

Associated Papers

Characterization of mutations in ATP8B1 associated with hereditary cholestasis.

Klomp LW et al.

Hepatology (baltimore, Md.), 2004

15239083 (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."