Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.A116_V124delFs
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APRT

NM_000485.3:p.A116_V124delFs

Associated Papers

Adenine phosphoribosyltransferase deficiency in children.

Harambat J et al.

Pediatric Nephrology (berlin, Germany), 2012

Adenine phosphoribosyltransferase deficiency: an underdiagnosed cause of lithiasis and renal failure.

Marra G et al.

Jimd Reports, 2012

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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."