Varaico: Literature-Extracted Genetic Variants

Gene:PDLIM3
Variant:p.D265Splc
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PDLIM3

NM_014476.6:p.D265Splc

Associated Papers

Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center.

Song YZ et al.

International Journal of Molecular Medicine, 2011

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.

Yeh JN et al.

The Journal of Pediatrics, 2006

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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."