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Human Mutation|November 15, 2018
Evidence of predisposing epimutation in retinoblastomaElisa Gelli, Anna Maria Pinto, Serena Somma, et al.Human Mutation|November 22, 2018
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndromeSagar J Pathak, James L Mueller, Kevin Okamoto, et al.Human Mutation|February 18, 2021
MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicingAlida Palmisano, Suleyman Vural, Yingdong Zhao, et al.Human Mutation|March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndromeMichael M Khayat, He Li, Varuna Chander, et al.Human Mutation|February 23, 2017
PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learnedAbhishek Niroula, Mauno VihinenHuman Mutation|March 9, 2017
Single-base substitutions in the CHM promoter as a cause of choroideremiaAlina Radziwon, Gavin Arno, Dianna K Wheaton, et al.Human Mutation|March 4, 2017
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprintedMiguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, et al.Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.Human Mutation|March 21, 2017
A functional SNP regulated by miR-196a-3p in the 3'UTR of FGF2 is associated with bone mineral density in the Chinese populationDong-Li Zhu, Yan Guo, Yan Zhang, et al.Human Mutation|September 7, 2019
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somaticallyBradford Coffee, Hannah C Cox, Ryan Bernhisel, et al.Pageof 583