Varaico: Literature-Extracted Genetic Variants

Gene:PABPC3
Variant:p.A114T
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PABPC3

NM_030979.3:p.A114T

Associated Papers

Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.

Yeo NK et al.

Frontiers in Genetics, 2024

Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.

Delgado-Vega AM et al.

Scientific Reports, 2018

Structural characterization of single nucleotide variants at ligand binding sites and enzyme active sites of human proteins.

Yamada KD et al.

Biophysics and Physicobiology, 2016

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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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."