Varaico: Literature-Extracted Genetic Variants

Gene:SEMA6B
Variant:p.Q696*
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SEMA6B

NM_032108.4:p.Q696*

Associated Papers

A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.

Wang P et al.

Genome Biology, 2025

40696461 (PubMed )
Supplement: 13059_2025_3667_MOESM1_ESM.xlsx › Overlap_between_lines

Progressive Myoclonus Epilepsy and Beyond: A Systematic Review of SEMA6B-related Disorders.

Altıntaş M et al.

Neuropediatrics, 2025

The natural history of progressive myoclonus ataxia.

van der Veen S et al.

Neurobiology of Disease, 2024

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

Castellotti B et al.

Epilepsia Open, 2023

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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."