Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4235fs
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KMT2D

NM_003482.4:p.Q4235fs

Associated Papers

SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.

Portelinha A et al.

The Journal of Experimental Medicine, 2024

39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset

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

Nishi E et al.

American Journal of Medical Genetics. Part A, 2024

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N et al.

Human Mutation, 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."