Varaico: Literature-Extracted Genetic Variants

Gene:MED27
Variant:p.H179P
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MED27

NM_004269.4:p.H179P

Associated Papers

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

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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."