Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5002Q
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KMT2D

NM_003482.4:p.R5002Q

Associated Papers

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.

Safarirad M et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2021

Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Zhou Y et al.

Neoplasia (new York, N.y.), 2018

30227305 (PubMed )
Supplement: mmc1.xlsx › Supplementary_6
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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."