Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.G326R
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LMOD3

NM_198271.5:p.G326R

Associated Papers

A nemaline myopathy-linked mutation inhibits the actin-regulatory functions of tropomodulin and leiomodin.

Schultz LE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Skowron MA et al.

Scientific Reports, 2019

31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM13_ESM.xlsx › Unique_in_T-24-LTT

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

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.

Schatz UA et al.

Neurology, 2018

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."