Varaico: Literature-Extracted Genetic Variants

Gene:KDM5B
Variant:p.Q408*
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KDM5B

NM_001314042.2:p.Q408*

Associated Papers

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

Borroto MC et al.

Genes, 2024

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

38113761 (PubMed )
Supplement: mmc2.xlsx › Table_S4
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