Varaico: Literature-Extracted Genetic Variants

Gene:CCBE1
Variant:p.L229fs
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CCBE1

NM_133459.4:p.L229fs

Associated Papers

CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.

Viveiros A et al.

Hepatology (baltimore, Md.), 2017

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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."