Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.P39R
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ACTG2

NM_001615.4:p.P39R

Associated Papers

Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.

Hilberath J et al.

Orphanet Journal of Rare Diseases, 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

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

Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series.

Lee H et al.

Journal of Pediatric Gastroenterology and Nutrition, 2019

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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."