Varaico: Literature-Extracted Genetic Variants

Gene:DSCAM
Variant:p.L1152L
Back to variants list

DSCAM

NM_001389.5:p.L1152L

Associated Papers

Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?

Marques P et al.

Epilepsy Research, 2024

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

LaFlamme CW et al.

Nature Communications, 2024

39107278 (PubMed )
Supplement: 41467_2024_50159_MOESM5_ESM.xlsx › SupplementaryData2B

Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.

Wang X et al.

Genes, 2022

35627293 (PubMed )
Supplement: genes-13-00908-s001.zip › Supporting_information_Table_S2.xlsx › Table_S2

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Niu Y et al.

Frontiers in Neurology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."