Varaico: Literature-Extracted Genetic Variants

Gene:SEMA6B
Variant:p.S650_R657insFs
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SEMA6B

NM_032108.4:p.S650_R657insFs

Associated Papers

Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.

Castellotti B et al.

Epilepsia Open, 2023

36719163 (PubMed )
Supplement: EPI4-8-645-s001.xlsx › Supplementary_table

Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review.

Duan J et al.

Frontiers in Pediatrics, 2022

A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.

Li Q et al.

Journal of Molecular Neuroscience : Mn, 2021

Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy.

Xiaozhen S et al.

Frontiers in Cell and Developmental Biology, 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."