Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2121D
Back to variants list

KMT2D

NM_003482.4:p.A2121D

Associated Papers

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.

Boniel S et al.

Frontiers in Genetics, 2024

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."