Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.F174_S175del1
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APRT

NM_000485.3:p.F174_S175del1

Associated Papers

Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.

Cheng Y et al.

Internal Medicine (tokyo, Japan), 2021

Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.

Runolfsdottir HL et al.

European Journal of Human Genetics : Ejhg, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

Ceballos-Picot I et al.

Nucleosides, Nucleotides & Nucleic Acids, 2014

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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."