Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R1151*
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KMT2A

NM_001197104.2:p.R1151*

Associated Papers

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

Wang M et al.

Bmc Pediatrics, 2025

40604511 (PubMed )
Supplement: 12887_2025_5751_MOESM3_ESM.xlsx › Sheet3

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

Foroutan A et al.

International Journal of Molecular Sciences, 2022

Targeted-Gene Sequencing to Catch Triple Negative Breast Cancer Heterogeneity before and after Neoadjuvant Chemotherapy.

Di Cosimo S et al.

Cancers, 2019

31717320 (PubMed )
Supplement: cancers-11-01753-s001.zip › TableS2.xlsx › Supplementary_Table_Mutazioni
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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."