Varaico: Literature-Extracted Genetic Variants

Gene:MAP3K20
Variant:p.W172*
Back to variants list

MAP3K20

NM_016653.3:p.W172*

Associated Papers

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

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

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."