Varaico: Literature-Extracted Genetic Variants

Gene:KDM6B
Variant:p.P888S
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KDM6B

NM_001348716.2:p.P888S

Associated Papers

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."