Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q2388fs
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KMT2D

NM_003482.4:p.Q2388fs

Associated Papers

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Nishi E et al.

American Journal of Medical Genetics. Part A, 2024

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 2016

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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."