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Human Mutation|March 31, 2015
Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli StrainKeigo Komine, Hideki Shimodaira, Masashi Takao, et al.Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.Human Mutation|November 1, 2012
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeatsJulie van der Zee, Ilse Gijselinck, Lubina Dillen, et al.Human Mutation|January 14, 2014
TP53 mutation analysis in clinical practice: lessons from chronic lymphocytic leukemiaJitka Malcikova, Sarka Pavlova, Katerina Stano Kozubik, et al.Human Mutation|January 23, 2014
TP53 mutants in the tower of babel of cancer progressionAlessandra Bisio, Yari Ciribilli, Gilberto Fronza, et al.Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.Human Mutation|July 2, 2014
A rising titan: TTN review and mutation updateClaire Chauveau, John Rowell, Ana FerreiroHuman Mutation|June 20, 2014
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspotsDavid Baux, Catherine Blanchet, Christian Hamel, et al.Human Mutation|July 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, et al.Human Mutation|July 12, 2020
Clinical and laboratory interpretation of mitochondrial mRNA variantsLee-Jun C Wong, Ting Chen, Eric S Schmitt, et al.Pageof 583