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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 3
作者:  Rapaport F.;  Boisson B.;  Gregor A.;  Béziat V.;  Boisson-Dupuis S.;  Bustamante J.;  Jouanguy E.;  Puel A.;  Rosain J.;  Zhang Q.;  Zhang S.-Y.;  Gleeson J.G.;  Quintana-Murci L.;  Casanova J.-L.;  Abel L.;  Patin E.
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Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 15
作者:  Le Voyer T.;  Neehus A.-L.;  Yang R.;  Ogishi M.;  Rosain J.;  Alroqi F.;  Alshalan M.;  Blumental S.;  Ali F.A.;  Khan T.;  Ata M.;  Rozen L.;  Demulder A.;  Bastard P.;  Gruber C.;  Roynard M.;  Seeleuthener Y.;  Rapaport F.;  Bigio B.;  Chrabieh M.;  Sng D.;  Berteloot L.;  Boddaert N.;  Rozenberg F.;  Al-Muhsen S.;  Bertoli-Avella A.;  Abel L.;  Bogunovic D.;  Marr N.;  Mansouri D.;  Mutairi F.A.;  Béziat V.;  Weil D.;  Mahdaviani S.A.;  Ferster A.;  Zhang S.-Y.;  Reversade B.;  Boisson-Dupuis S.;  Casanova J.-L.;  Bustamante J.
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