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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEB

Variant:p.G6976delFs

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NEB

NM_001164508.2:p.G6976delFs

hg38:chr2:151538208 TC>T

Associated Papers

Characterization of congenital myopathies at a Korean neuromuscular center.

Park YE et al.

Muscle & Nerve, 2018

29669168 (PubMed )

Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea.

Lee JM et al.

Journal of the Neurological Sciences, 2017

29246625 (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."