Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.R2657C
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CFAP46

NM_001200049.3:p.R2657C

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D
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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."