Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.R564*
Back to variants list

MED13L

NM_015335.5:p.R564*

Associated Papers

MED13L-related disorder characterized by severe motor speech impairment.

Mitchel MW et al.

Journal of Neurodevelopmental Disorders, 2025

MED13L-related disorder characterized by severe motor speech impairment.

Mitchel MW et al.

Research Square, 2024

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Smol T et al.

Neurogenetics, 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."