Varaico: Literature-Extracted Genetic Variants

Gene:KDM6B
Variant:p.R149*
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KDM6B

NM_001348716.2:p.R149*

Associated Papers

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Zhou X et al.

Nature Genetics, 2022

35982159 (PubMed )
Supplement: 41588_2022_1148_MOESM6_ESM.xlsx › SupplementaryData2_ASD_Rep_DNVs

Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features.

Stolerman ES et al.

American Journal of Medical Genetics. Part A, 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."