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Human Mutation|November 10, 2020
The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage responseYue Zhang, Jung-Young Park, Fan Zhang, et al.Human Mutation|February 29, 2020
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysisEmma M Wade, Benjamin J Halliday, Zandra A Jenkins, et al.Human Mutation|February 13, 2020
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromesIsabel Diebold, Ulrike Schön, Florentine Scharf, et al.Human Mutation|November 7, 2019
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry compositionIn-Hee Lee, Jose A Negron, Carles Hernandez-Ferrer, et al.Human Mutation|January 10, 2020
Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CLAnne-Sophie Chong, George Chong, William D Foulkes, et al.Human Mutation|December 18, 2014
MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variantsStefano Castellana, Judit Rónai, Tommaso MazzaHuman Mutation|March 11, 2018
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingersRivka Sukenik Halevy, Huan-Chieh Chien, Bo Heinz, et al.Human Mutation|March 24, 2018
STX2 is a causative gene for nonobstructive azoospermiaShigeru Nakamura, Yoshitomo Kobori, Yoshihiko Ueda, et al.Human Mutation|March 25, 2018
Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related diseaseAnthony Antonellis, Stephanie N Oprescu, Laurie B Griffin, et al.Human Mutation|January 18, 2019
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 geneBrandon M D'Arcy, Jessa Blount, Aishwarya PrakashPageof 583