Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.R178S
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ACTG2

NM_001615.4:p.R178S

Associated Papers

Prenatal Diagnosis of ACTG2 Visceral Myopathy Presented With Fetal Megacystis Identified in the Second Trimester.

Yu QX et al.

Prenatal Diagnosis, 2025

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

Devavarapu PKV et al.

Clinical Journal of Gastroenterology, 2024

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

ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.

Collins RRJ et al.

International Journal of Surgical Pathology, 2019

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.

Korğalı EÜ et al.

Fetal and Pediatric Pathology, 2018

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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."