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Human Mutation|July 11, 2022
Mutation update: The spectra of PLEC sequence variants and related plectinopathiesHassan Vahidnezhad, Leila Youssefian, Nailah Harvey, et al.Human Mutation|May 16, 2014
Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methodsKyu-Baek Hwang, In-Hee Lee, Jin-Ho Park, et al.Human Mutation|May 20, 2014
The challenge for the next generation of medical geneticistsThierry FrebourgHuman Mutation|May 23, 2014
Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curationMaria Livia Famiglietti, Anne Estreicher, Arnaud Gos, et al.Human Mutation|November 6, 2012
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptionsMasoumeh Fallahian, Neil J Sebire, Philip M Savage, et al.Human Mutation|March 13, 2015
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expressionLuke B Hesson, Deborah Packham, Chau-To Kwok, et al.Human Mutation|March 13, 2015
amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosisHilde Monica Frostad Riise Stensland, Gabrio Frantzen, Elina Kuokkanen, et al.Human Mutation|March 31, 2015
Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion SyndromeRichard J L F Lemmers, Marlinde L van den Boogaard, Patrick J van der Vliet, et al.Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.Human Mutation|July 16, 2020
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assayEugénie Dionnet, Aurélia Defour, Nathalie Da Silva, et al.Pageof 583