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Human Mutation|May 28, 2014
Ancient and recent adaptive evolution in the antiviral TRIM22 gene: identification of a single-nucleotide polymorphism that impacts TRIM22 functionJenna N Kelly, Matthew W Woods, Sintia Xhiku, et al.Human Mutation|March 3, 2015
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International CohortAlan T Nurden, Xavier Pillois, Mathieu Fiore, et al.Human Mutation|June 18, 2014
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequenceChristopher T Gordon, Catia Attanasio, Shipra Bhatia, et al.Human Mutation|February 14, 2015
The ARVD/C genetic variants database: 2014 updateElisabetta Lazzarini, Jan D H Jongbloed, Kalliopi Pilichou, et al.Human Mutation|February 14, 2015
wKGGSeq: A Comprehensive Strategy-Based and Disease-Targeted Online Framework to Facilitate Exome Sequencing Studies of Inherited DisordersMulin Jun Li, Jiaen Deng, Panwen Wang, et al.Human Mutation|April 8, 2015
Alström Syndrome: Mutation Spectrum of ALMS1Jan D Marshall, Jean Muller, Gayle B Collin, et al.Human Mutation|April 15, 2015
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and PrioritizationK Joeri van der Velde, Joël Kuiper, Bryony A Thompson, et al.Human Mutation|July 10, 2020
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndromeChun-An Chen, Emeline Crutcher, Harinder Gill, et al.Human Mutation|July 6, 2020
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseasesAndrei L Turinsky, Sanaa Choufani, Kevin Lu, et al.Human Mutation|August 3, 2020
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6Aparna S Chivukula, Mariia Suslova, Daniel Kortzak, et al.Pageof 583