Varaico: Literature-Extracted Genetic Variants

Gene:FOCAD
Variant:p.Q154*
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FOCAD

NM_001375570.1:p.Q154*

Associated Papers

A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment.

Nuzhnaya E et al.

Frontiers in Medicine, 2025

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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."