Varaico: Literature-Extracted Genetic Variants

Gene:CBX2
Variant:p.Q349H
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CBX2

NM_005189.3:p.Q349H

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency.

Christen M et al.

Genes, 2022

36292732 (PubMed )
Supplement: genes-13-01847-s001.zip › Table_S3_Private_Variants__R1.xlsx › Private_homozygous_variants
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