Varaico: Literature-Extracted Genetic Variants

Gene:KDM3B
Variant:p.Q827*
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KDM3B

NM_016604.4:p.Q827*

Associated Papers

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Anderson EN et al.

American Journal of Human Genetics, 2026

41468891 (PubMed )
Supplement: mmc2.xlsx › S7_KDM_genes_literature

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

Cao F et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

Jo S et al.

Clinical Genetics, 2025

Two patients with KDM3B variants and new presentations of Diets-Jongmans syndrome.

Zhao X et al.

Neurogenetics, 2023

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.

Diets IJ et al.

American Journal of Human Genetics, 2019

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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."