Varaico: Literature-Extracted Genetic Variants

Gene:FBXW11
Variant:p.R447K
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FBXW11

NM_001378974.1:p.R447K

Associated Papers

Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.

Zeng Z et al.

Human Genomics, 2025

Clinical variants paired with phenotype: A rich resource for brain gene curation.

Chopra M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Holt RJ et al.

American Journal of Human Genetics, 2019

31402090 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_1
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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."