Varaico: Literature-Extracted Genetic Variants

Gene:NEB
Variant:p.D1781_K1782Splc
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NEB

NM_001164508.2:p.D1781_K1782Splc

Associated Papers

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.

Yin X et al.

Acta Neurologica Belgica, 2022

Nebulin: big protein with big responsibilities.

Yuen M et al.

Journal of Muscle Research and Cell Motility, 2020

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Telfer WR et al.

Disease Models & Mechanisms, 2012

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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."