Varaico: Literature-Extracted Genetic Variants

Gene:NUFIP1
Variant:p.A41A
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NUFIP1

NM_012345.3:p.A41A

Associated Papers

Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.

Shen L

Biology, 2026

41744643 (PubMed )
Supplement: biology-15-00334-s001.zip › biology-4095010-supplementary-table-S1-to-S8.xlsx › Table_S2
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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."