Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.E196D
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ACTG2

NM_001615.4:p.E196D

Associated Papers

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series.

Wolfson S et al.

Journal of Pediatric Gastroenterology and Nutrition, 2026

Actg2D245G Mutation Causes Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome by Impairing Smooth Muscle Contractility.

Zhou J et al.

Journal of Pediatric Surgery, 2025

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

Chen Y et al.

Frontiers in Medicine, 2025

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

Devavarapu PKV et al.

Clinical Journal of Gastroenterology, 2024

Heterozygous Actg2R257C mice mimic the phenotype of megacystis microcolon intestinal hypoperistalsis syndrome.

Cai H et al.

Neurogastroenterology and Motility, 2023

Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.

Matera I et al.

Clinical Genetics, 2021

Visceral myopathy diagnosed by a de novo ACTG2 mutation in a patient with chronic intestinal pseudo-obstruction-a case report.

Xiong X et al.

Translational Pediatrics, 2021

Variants in the Enteric Smooth Muscle Actin γ-2 Cause Pediatric Intestinal Pseudo-obstruction in Chinese Patients.

Wei Z et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

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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."