Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2471delFs
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KMT2D

NM_003482.4:p.R2471delFs

Associated Papers

Cerebral inflammation in a patient with Kabuki syndrome.

Nicoletti T et al.

Acta Neurologica Belgica, 2025

Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Liu R et al.

Cancer Science, 2023

36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_
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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."