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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: May 27, 2023. (Total: 217315Documents)
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Query Trace: Adenine Phosphoribosyltransferase Deficiency[original query]
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
European journal of human genetics : EJHG 2021 3 29 (7): 1061-1070.
Runolfsdottir Hrafnhildur L, Sayer John A, Indridason Olafur S, Edvardsson Vidar O, Jensson Brynjar O, Arnadottir Gudny A, Gudjonsson Sigurjon A, Fridriksdottir Run, Katrinardottir Hildigunnur, Gudbjartsson Daniel, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Kari, Palsson Runolf
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