Varaico: Literature-Extracted Genetic Variants

Gene:RTF1
Variant:p.K454M
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RTF1

NM_015138.5:p.K454M

Associated Papers

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST12

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.

Nishioka M et al.

Molecular Psychiatry, 2023

37248276 (PubMed )
Supplement: 41380_2023_2096_MOESM2_ESM.xlsx › TableS4

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nishioka M et al.

Nature Communications, 2021

34145229 (PubMed )
Supplement: 41467_2021_23453_MOESM9_ESM.xlsx › Supplementary_Data_6
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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."