Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.V2853G
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KMT2A

NM_005933.4:p.V2853G

Associated Papers

RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome.

Mietton L et al.

Neuromolecular Medicine, 2018

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.

Lebrun N et al.

European Journal of Human Genetics : Ejhg, 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."