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Hemoglobin Ohio (beta 142 Ala replaced by): a new abnormal hemoglobin with high oxygen affinity and erythrocytosis

Autor: Moo-Penn, WF, Schneider, RG, Shih, T, Jones, RT, Govindarajan, S, Govindarajan, PG, Patchen, LC

Publikováno v: Blood; August 1980, Vol. 56 Issue: 2 p246-250, 5p

Abnormal hemoglobins in a quarter million people

Autor: Schneider, RG, Hightower, B, Hosty, TS, Ryder, H, Tomlin, G, Atkins, R, Brimhall, B, Jones, RT

Publikováno v: Blood; November 1976, Vol. 48 Issue: 5 p629-637, 9p

HbE-beta-thalassemia associated with G6PD deficiency

Autor: Carpentieri U, Hightower Bj, Haggard Me, Schneider Rg

Publikováno v: Southern medical journal. 73(4)

HbE, beta thalassemia, and G6PD deficiency were demonstrated in a 6-year-old Mexican-American child with anemia, jaundice, and delayed growth. The father was heterozygous for HbE, and the mother for beta-thalassemia and G6PD deficiency. The associati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f3f5a433bb29f3a1acc7168c1d426b6
https://pubmed.ncbi.nlm.nih.gov/7367946

Accurate proteome-wide missense variant effect prediction with AlphaMissense.

Autor: Cheng J; Google DeepMind, London, UK., Novati G; Google DeepMind, London, UK., Pan J; Google DeepMind, London, UK., Bycroft C; Google DeepMind, London, UK., Žemgulytė A; Google DeepMind, London, UK., Applebaum T; Google DeepMind, London, UK., Pritzel A; Google DeepMind, London, UK., Wong LH; Google DeepMind, London, UK., Zielinski M; Google DeepMind, London, UK., Sargeant T; Google DeepMind, London, UK., Schneider RG; Google DeepMind, London, UK., Senior AW; Google DeepMind, London, UK., Jumper J; Google DeepMind, London, UK., Hassabis D; Google DeepMind, London, UK., Kohli P; Google DeepMind, London, UK., Avsec Ž; Google DeepMind, London, UK.

Publikováno v: Science (New York, N.Y.) [Science] 2023 Sep 22; Vol. 381 (6664), pp. eadg7492. Date of Electronic Publication: 2023 Sep 22.