Varaico: Literature-Extracted Genetic Variants

Gene:FOCAD
Variant:p.K702_D703Splc
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FOCAD

NM_001375567.1:p.K702_D703Splc

Associated Papers

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Moreno Traspas R et al.

Nature Genetics, 2022

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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."