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Cover Image, Volume 38, Issue 3.
- Published in:
- Human Mutation, 2017, v. 38, n. 3, p. i, doi. 10.1002/humu.23194
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- Article
Issue Information.
- Published in:
- Human Mutation, 2017, v. 38, n. 3, p. 237, doi. 10.1002/humu.23187
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- Article
One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins.
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- Human Mutation, 2017, v. 38, n. 3, p. 241, doi. 10.1002/humu.23180
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PERCH: A Unified Framework for Disease Gene Prioritization.
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- Human Mutation, 2017, v. 38, n. 3, p. 243, doi. 10.1002/humu.23158
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The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
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- Human Mutation, 2017, v. 38, n. 3, p. 252, doi. 10.1002/humu.23160
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Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
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- Human Mutation, 2017, v. 38, n. 3, p. 260, doi. 10.1002/humu.23140
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Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk.
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- Human Mutation, 2017, v. 38, n. 3, p. 265, doi. 10.1002/humu.23154
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Somatic MED12 Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry.
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- Human Mutation, 2017, v. 38, n. 3, p. 269, doi. 10.1002/humu.23157
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Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions.
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- Human Mutation, 2017, v. 38, n. 3, p. 275, doi. 10.1002/humu.23162
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SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations.
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- Human Mutation, 2017, v. 38, n. 3, p. 279, doi. 10.1002/humu.23152
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Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights.
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- Human Mutation, 2017, v. 38, n. 3, p. 289, doi. 10.1002/humu.23155
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TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
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- Human Mutation, 2017, v. 38, n. 3, p. 297, doi. 10.1002/humu.23161
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Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.
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- Human Mutation, 2017, v. 38, n. 3, p. 310, doi. 10.1002/humu.23166
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Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
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- Human Mutation, 2017, v. 38, n. 3, p. 317, doi. 10.1002/humu.23168
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Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
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- Human Mutation, 2017, v. 38, n. 3, p. 324, doi. 10.1002/humu.23150
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- Article