相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。VarSome: the human genomic variant search engine
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AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2018)
New Look at Hemoglobin Allostery
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CHEMICAL REVIEWS (2015)
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies (vol 23, pg 426, 2015)
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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
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CLINICA CHIMICA ACTA (2012)
A comprehensive analysis of hemoglobin variants by high-performance liquid chromatography (HPLC)
J. Szuberski et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2012)
A method and server for predicting damaging missense mutations
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NATURE METHODS (2010)
FIVE VARIANTS OF THE beta-GLOBIN GENE WITHOUT CLINICAL OR HEMATOLOGICAL EFFECTS: Hb MARYLAND [beta 47(CD6)Asp -> His], Hb KENT [beta 37(C3)Trp -> Cys], Hb VISAYAN [beta 136(H14)Gly -> Cys], Hb CUTLERVILLE [beta 138(H16)Ala -> Val] AND Hb HORNCHURCH [beta 43(CD2)Glu -> Lys]
James D. Hoyer et al.
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