Varaico: Literature-Extracted Genetic Variants

Gene:DSCAM
Variant:p.Y1246fs
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DSCAM

NM_001389.5:p.Y1246fs

Associated Papers

Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.

Das S et al.

Communications Biology, 2025

41353477 (PubMed )
Supplement: 42003_2025_9225_MOESM3_ESM.xlsx › Supplementary_Data_8

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.

Feng W et al.

Pediatric Investigation, 2022

A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.

Zhu L et al.

Frontiers in Genetics, 2022

35222528 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_S1.xlsx › single-nucleotide_or_indel

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

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