Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.E357*
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LMOD3

NM_198271.5:p.E357*

Associated Papers

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Michael E et al.

Neuromuscular Disorders : Nmd, 2019

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Wang Y et al.

Frontiers in Genetics, 2019

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

Kiiski K et al.

European Journal of Human Genetics : Ejhg, 2016

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M et al.

The Journal of Clinical Investigation, 2015

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M et al.

The Journal of Clinical Investigation, 2014

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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."