Varaico: Literature-Extracted Genetic Variants

Gene:DSCAM
Variant:p.Y1447delFs
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DSCAM

NM_001389.5:p.Y1447delFs

Associated Papers

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

Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.

Luo X et al.

Frontiers in Cell and Developmental Biology, 2022

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