Varaico: Literature-Extracted Genetic Variants

Gene:DSCAM
Variant:p.L1546L
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DSCAM

NM_001389.5:p.L1546L

Associated Papers

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

Feng W et al.

Pediatric Investigation, 2022

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

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

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

Lin L et al.

Orphanet Journal of Rare Diseases, 2020

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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."