Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE19
Variant:p.R223*
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ZFYVE19

NM_001077268.2:p.R223*

Associated Papers

Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis.

Pepe A et al.

Frontiers in Pediatrics, 2023

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Mandato C et al.

Orphanet Journal of Rare Diseases, 2021

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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."