Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2980V
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KMT2D

NM_003482.4:p.A2980V

Associated Papers

Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.

Samarkhanova D et al.

Journal of Clinical Medicine, 2025

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Li Z et al.

Bmc Musculoskeletal Disorders, 2020

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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."