Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.L327L
Back to variants list

MAML1

NM_014757.5:p.L327L

Associated Papers

Could the MED13 mutations manifest as a Kabuki-like syndrome?

De Nardi L et al.

American Journal of Medical Genetics. Part A, 2021

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."