Varaico: Literature-Extracted Genetic Variants

Gene:LIG3
Variant:p.G964R
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LIG3

NM_013975.4:p.G964R

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

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.

Invernizzi F et al.

Brain : a Journal of Neurology, 2021

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Bonora E et al.

Brain : a Journal of Neurology, 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."