Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.A268Splc
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CHRNE

NM_000080.4:p.A268Splc

Associated Papers

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey.

Özsoy Ö et al.

Acta Neurologica Belgica, 2023

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Estephan EP et al.

Journal of Neurology, 2018

Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.

Ohno K et al.

Journal of Medical Genetics, 2005

[Electron microscopy liver findings in a child with Gilbert's syndrome].

Hager-Malecka B et al.

Polski Tygodnik Lekarski (warsaw, Poland : 1960), 1971

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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."