Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.C5104R
Back to variants list

KMT2D

NM_003482.4:p.C5104R

Associated Papers

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

Nishi E et al.

American Journal of Medical Genetics. Part A, 2024

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."