Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.T195I
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ACTG2

NM_001615.4:p.T195I

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

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

Chen Y et al.

Frontiers in Medicine, 2025

Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.

Hashmi SK et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 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

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

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

Moreno CA et al.

American Journal of Medical Genetics. Part A, 2016

Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.

Kapur RP et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

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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."