Varaico: Literature-Extracted Genetic Variants

Gene:ACTG2
Variant:p.A23T
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ACTG2

NM_001615.4:p.A23T

Associated Papers

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

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.

Dong W et al.

Clinical Genetics, 2019

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

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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."