Varaico: Literature-Extracted Genetic Variants

Gene:MAFK
Variant:p.L59delFs
Back to variants list

MAFK

NM_002360.4:p.L59delFs

Associated Papers

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.

Blondel A et al.

Molecular Genetics and Metabolism, 2023

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."