Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.L27_S28delFs
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TBC1D24

NM_001199107.2:p.L27_S28delFs

Associated Papers

Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.

Zhou Q et al.

Frontiers in Neurology, 2017

29416524 (PubMed )
Supplement: data_sheet_1.docx

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

Law CY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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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."