Varaico: Literature-Extracted Genetic Variants

Gene:KDM6A
Variant:p.G325Splc
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KDM6A

NM_001291415.2:p.G325Splc

Associated Papers

Next-Generation Sequencing-Based Genomic Profiling of Children with Acute Myeloid Leukemia.

Krizsán S et al.

The Journal of Molecular Diagnostics : Jmd, 2023

37088137 (PubMed )
Supplement: mmc4.xlsx › Supplementary_Table_S4

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.

Sakaria RP et al.

Frontiers in Genetics, 2021

34899850 (PubMed )
Supplement: DataSheet4.PDF

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

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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."