Varaico: Literature-Extracted Genetic Variants

Gene:FBXO28
Variant:p.R348L
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FBXO28

NM_015176.4:p.R348L

Associated Papers

Acetazolamide as a therapeutic alternative for central sleep apnea in pediatric patient with FBXO28 gene mutation: A case report and review of literature.

Sirianansopa K et al.

Sleep Medicine, 2024

Systematic discovery of protein interaction interfaces using AlphaFold and experimental validation.

Lee CY et al.

Molecular Systems Biology, 2024

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Schneider AL et al.

Epilepsia, 2021

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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."