Varaico: Literature-Extracted Genetic Variants

Gene:PRIMPOL
Variant:p.I369T
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PRIMPOL

NM_152683.4:p.I369T

Associated Papers

PrimPol Variant V102A with Altered Primase and Polymerase Activities.

Boldinova EO et al.

Journal of Molecular Biology, 2024

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

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.

Yang E et al.

Investigative Ophthalmology & Visual Science, 2023

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

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Ryland GL et al.

Genome Medicine, 2015

26257827 (PubMed )
Supplement: 13073_2015_210_MOESM1_ESM.xlsx › Table_S3
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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."