Varaico: Literature-Extracted Genetic Variants

Gene:DOK7
Variant:p.L74insFs
Back to variants list

DOK7

NM_173660.5:p.L74insFs

Associated Papers

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.

Luan X et al.

Clinical Neurology and Neurosurgery, 2016

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.

Gallenmüller C et al.

Neuromuscular Disorders : Nmd, 2014

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Chaouch A et al.

Neuromuscular Disorders : Nmd, 2012

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."