Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P3091fs
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KMT2D

NM_003482.4:p.P3091fs

Associated Papers

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Brohl AS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28125078 (PubMed )
Supplement: NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
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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."