Varaico: Literature-Extracted Genetic Variants

Gene:MED13L
Variant:p.R1900*
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MED13L

NM_015335.5:p.R1900*

Associated Papers

MED13L-related disorder characterized by severe motor speech impairment.

Mitchel MW et al.

Journal of Neurodevelopmental Disorders, 2025

40993520 (PubMed )
Supplement: 11689_2025_9645_MOESM1_ESM.xlsx › Table_S2

Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.

Pang N et al.

Gene, 2024

Clinical application of whole exome sequencing technology in small-for-gestational-age children.

Xie Y et al.

American Journal of Translational Research, 2023

Genetic Aspects of Small for Gestational Age Infants Using Targeted-Exome Sequencing and Whole-Exome Sequencing: A Single Center Study.

Park SJ et al.

Journal of Clinical Medicine, 2022

Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.

Brastianos PK et al.

Npj Precision Oncology, 2017

29872714 (PubMed )
Supplement: 41698_2017_35_MOESM2_ESM.xlsx › phylogic_mafs
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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."