Varaico: Literature-Extracted Genetic Variants

Gene:ZFYVE19
Variant:p.R172*
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ZFYVE19

NM_001077268.2:p.R172*

Associated Papers

Clinical features and long-term outcomes of patients with ZFYVE19 variants.

Li JQ et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2025

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

Luan W et al.

Journal of Medical Genetics, 2021

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."