Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K20
Variant:p.M164fs
Back to variants list

MAP3K20

NM_016653.3:p.M164fs

Associated Papers

Myofibrillar myopathy hallmarks associated with ZAK deficiency.

Stonadge A et al.

Human Molecular Genetics, 2023

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.

Ahmad I et al.

Journal of Human Genetics, 2023

Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.

Vasli N et al.

Brain : a Journal of Neurology, 2017

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."