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Human Mutation|July 25, 2016
New Directions in Gaucher DiseaseMia Horowitz, Deborah Elstein, Ari Zimran, et al.Human Mutation|August 13, 2016
Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and ChallengesDario Veneziano, Sebastiano Di Bella, Giovanni Nigita, et al.Human Mutation|July 16, 2015
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan SyndromeViviana Cordeddu, Jiani C Yin, Cecilia Gunnarsson, et al.Human Mutation|July 16, 2015
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean PopulationHicham Charoute, Amina Bakhchane, Houda Benrahma, et al.Human Mutation|July 16, 2015
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPKP Y Billie Au, Jing You, Oana Caluseriu, et al.Human Mutation|April 25, 2015
Further Confirmation of Germline Glioma Risk Variant rs78378222 in TP53 and Its Implication in Tumor Tissues via Integrative Analysis of TCGA DataZhaoming Wang, Preetha Rajaraman, Beatrice S Melin, et al.Human Mutation|April 25, 2015
The KM-parkin-DB: A Sub-set MutationView Database Specialized for PARK2 (PARKIN) VariantsSusumu Mitsuyama, Masafumi Ohtsubo, Shinsei Minoshima, et al.Human Mutation|April 25, 2015
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, et al.Human Mutation|January 1, 1997
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiencyJ Villard, W Reith, E Barras, et al.Human Mutation|January 1, 1997
Cystic fibrosis mutation frequencies in upstate New YorkA E Shrimpton, D Borowitz, P SwenderPageof 583