Varaico: Literature-Extracted Genetic Variants

Gene:NFIA
Variant:p.Q69*
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NFIA

NM_001134673.4:p.Q69*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature.

Paschell P et al.

Clinical Case Reports, 2024

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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