Varaico: Literature-Extracted Genetic Variants

Gene:CHD2
Variant:p.M1388delFs
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CHD2

NM_001271.4:p.M1388delFs

Associated Papers

Special clinical entity with 15q26 deletion: a novel case report.

Liu et al.

Journal of Genetics, 2024

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

CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation.

Bernardo P et al.

Seizure, 2017

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