Varaico: Literature-Extracted Genetic Variants

Gene:RFT1
Variant:p.V6L
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RFT1

NM_052859.4:p.V6L

Associated Papers

An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA.

Vuillaumier-Barrot S et al.

Orphanet Journal of Rare Diseases, 2025

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