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Human Mutation|August 26, 1998
Information analysis of human splice site mutationsP K Rogan, B M Faux, T D SchneiderHuman Mutation|July 1, 2014
HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic miceZhe Jing, Rajendra K Gangalum, Ankur M Bhat, et al.Human Mutation|July 26, 2012
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliersMatthew A Lalli, Gloria Garcia, Lucia Madrigal, et al.Human Mutation|July 27, 2012
Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1βHella Luksch, Michael J Romanowski, Osvaldo Chara, et al.Human Mutation|August 14, 2012
Somatic expansion in mouse and human carriers of fragile X premutation allelesRachel Adihe Lokanga, Ali Entezam, Daman Kumari, et al.Human Mutation|August 21, 2012
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.Human Mutation|March 25, 2010
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7BLeiah M Luoma, Taha M M Deeb, Georgina Macintyre, et al.Human Mutation|April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Barbara Brechmann, Gali Heimer, et al.Human Mutation|November 1, 2012
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutationsHouda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, et al.Human Mutation|February 24, 2015
Oncotator: cancer variant annotation toolAlex H Ramos, Lee Lichtenstein, Manaswi Gupta, et al.Pageof 583