Varaico: Literature-Extracted Genetic Variants

Gene:MED27
Variant:p.P259L
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MED27

NM_004269.4:p.P259L

Associated Papers

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy.

Yiliyaer N et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

The indispensable role of Mediator complex subunit 27 during neurodevelopment.

Li X et al.

Cell & Bioscience, 2025

Novel homozygous missense variants in MED27 associated with neurodevelopmental disorder: Clinical and pathogenetic research.

Wu G et al.

Heliyon, 2024

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Maroofian R et al.

Brain : a Journal of Neurology, 2023

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Meng L et al.

Annals of Neurology, 2021

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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."