Varaico: Literature-Extracted Genetic Variants

Gene:LMOD1
Variant:p.T369M
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LMOD1

NM_012134.3:p.T369M

Associated Papers

Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.

Chen Y et al.

Frontiers in Medicine, 2025

A lmod1a mutation causes megacystis microcolon intestinal hypoperistalsis in a CRISPR/Cas9-modified zebrafish model.

Kalim AS et al.

Pediatric Surgery International, 2024

Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.

Devavarapu PKV et al.

Clinical Journal of Gastroenterology, 2024

Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation.

Liu K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

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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."