HUMAN MUTATION,volume 36,issue 5  (05-2015)

Period of time： 2015年5期

Publisher： John Wiley & Sons Inc

Founded in： 1992

Total resources： 41

E-ISSN： 1098-1004|36|5

ISSN： 1059-7794

Subject： Q Biological Sciences

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HUMAN MUTATION,volume 36,issue 5

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Contents

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. i-ii

John Wiley & Sons Inc

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The Importance of Proper Testing of Predictor Performance

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. iii-iv

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Skipping Skin Disease

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. iii-iii

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Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 489-495

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wKGGSeq: A Comprehensive Strategy‐Based and Disease‐Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited Disorders

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 496-503

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Exon‐Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 504-512

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The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 513-523

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On Human Disease‐Causing Amino Acid Variants: Statistical Study of Sequence and Structural Patterns

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 524-534

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Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 535-547

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Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort

HUMAN MUTATION,volume 36,issue 5 , Vol. 36, Iss. 5, 2015-05 , pp. 548-561

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