Varaico: Literature-Extracted Genetic Variants

Gene:FRRS1L
Variant:p.S246_P247del1
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FRRS1L

NM_014334.4:p.S246_P247del1

Associated Papers

Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.

Mir A et al.

Clinical Eeg and Neuroscience, 2023

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Koh HY et al.

Jama Network Open, 2023

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Madeo M et al.

American Journal of Human Genetics, 2016

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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."