Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.R547_G555insFs
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SLC25A13

NM_014251.3:p.R547_G555insFs

Associated Papers

The prognosis of citrin deficiency differs between early-identified newborn and later-onset symptomatic infants.

Chen CY et al.

Pediatric Research, 2023

Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.

Tran NH et al.

Human Mutation, 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."