Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.G291R
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KDM6A

NM_001291415.2:p.G291R

Associated Papers

Sex-specific difference in phenotype of Kabuki syndrome type 2 patients: a matched case-control study.

Wang Y et al.

Bmc Pediatrics, 2024

X-Linked intellectual disability update 2022.

Schwartz CE et al.

American Journal of Medical Genetics. Part A, 2023

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM3_ESM.xlsx › Clinical

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Aref-Eshghi E et al.

American Journal of Human Genetics, 2020

Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Wong TN et al.

Nature Communications, 2018

29386642 (PubMed )
Supplement: 41467_2018_2858_MOESM5_ESM.xlsx › Sheet1
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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."