Varaico: Literature-Extracted Genetic Variants

Gene:CHRNE
Variant:p.N115Splc
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CHRNE

NM_000080.4:p.N115Splc

Associated Papers

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

Ohno K et al.

Journal of Medical Genetics, 2005

A frameshifting mutation in CHRNE unmasks skipping of the preceding exon.

Ohno K et al.

Human Molecular Genetics, 2003

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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."