Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL
Variant:p.M130insFs
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PRIMPOL

NM_152683.4:p.M130insFs

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Miao M et al.

Bmc Medical Genomics, 2022

35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data

Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.

Cai XB et al.

Investigative Ophthalmology & Visual Science, 2019

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613705_nwcnpj.xlsx › 16_MAF_cell_line
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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."