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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEB

Variant:p.S7208R

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NEB

NM_001271208.2:p.S7208R

hg38:chr2:151531795 G>C

Associated Papers

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

Güttsches AK et al.

Neuromuscular Disorders : Nmd, 2015

25740301 (PubMed )

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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."