Varaico: Literature-Extracted Genetic Variants

Gene:LIG1
Variant:p.G249E
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LIG1

NM_000234.3:p.G249E

Associated Papers

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

Mejia Maza A et al.

American Journal of Human Genetics, 2026

41443196 (PubMed )
Supplement: mmc2.xlsx › Table_S12

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

MEFV, IRF8, ADA, PEPD, and NBAS gene variants and elevated serum cytokines in a patient with unilateral sporadic Meniere's disease and vascular congestion over the endolymphatic sac.

Zou J et al.

Journal of Otology, 2022

Cataloguing functionally relevant polymorphisms in gene DNA ligase I: a computational approach.

Singh AA et al.

3 Biotech, 2011

Variation in base excision repair capacity.

Wilson DM et al.

Mutation Research, 2011

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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."