Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.G174R
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KDM6A

NM_001291415.2:p.G174R

Associated Papers

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Faundes V et al.

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

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4
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