Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.S7208R
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NEB

NM_001271208.2:p.S7208R

Associated Papers

A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.

Wen Q et al.

Acta Neurologica Belgica, 2020

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Güttsches AK et al.

Neuromuscular Disorders : Nmd, 2015

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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."