Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.Q119*
Back to variants list

CHRNE

NM_000080.4:p.Q119*

Associated Papers

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

Theuriet J et al.

Brain : a Journal of Neurology, 2024

38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf

[Congenital myasthenic syndromes].

Eymard B

La Revue Du Praticien, 1998

[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests].

Chauplannaz G et al.

Revue Neurologique, 1994

The phenotypic expression of different mutations in transmissible human spongiform encephalopathy.

Brown P

Revue Neurologique, 1992

Congenital myasthenic syndromes by Epsilon subunit mutations: Phenotypic profiles of 17 Algerian families.

Kediha MI et al.

Revue Neurologique, 0

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."