Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED27

Variant:p.Q131fs

Back to variants list

MED27

NM_004269.4:p.Q131fs

hg38:chr9:132014425 CTG>N

Associated Papers

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

Maroofian R et al.

Brain : a Journal of Neurology, 2023

37517035 (PubMed )

Supplement: awad257_supplementary_data.zip › brain-2023-00192-File007.pdf

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."