Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.W6551*
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NEB

NM_001164508.2:p.W6551*

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

Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.

Wunderlich G et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L13
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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."