Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.S168N
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NEB

NM_001164508.2:p.S168N

Associated Papers

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.

Haghighi A et al.

European Journal of Human Genetics : Ejhg, 2023

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Clarke NF

Advances in Experimental Medicine and Biology, 2008

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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."