Varaico: Literature-Extracted Genetic Variants

Gene:APRT
Variant:p.G90delFs
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APRT

NM_000485.3:p.G90delFs

Associated Papers

Adenine phosphoribosyl transferase (APRT) deficiency and a novel sequence variant in APRT with phenotypic diversity and a literature review.

Leow EH et al.

Nephrology (carlton, Vic.), 2023

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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."