Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.P348L
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SLC25A13

NM_014251.3:p.P348L

Associated Papers

Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.

Kido J et al.

Human Mutation, 2025

Genetic and clinical features of patients with intrahepatic cholestasis caused by citrin deficiency.

Sun W et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023

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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."