Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.R858H
Back to variants list

MUSK

NM_005592.4:p.R858H

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

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
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."