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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A13

Variant:p.N229fs

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SLC25A13

NM_014251.3:p.N229fs

hg38:chr7:96191178 GTT>N

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

40309478 (PubMed )

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