Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A13
Variant:p.F217fs
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SLC25A13

NM_014251.3:p.F217fs

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

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

30285816 (PubMed )
Supplement: 13023_2018_908_MOESM1_ESM.xlsx › Sheet1

Citrin deficiency: A treatable cause of acute psychosis in adults.

Bijarnia-Mahay S et al.

Neurology India, 0

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