Human Mutation – MBExC https://mbexc.de Multiscale Bioimaging - Cluster of Excellence Mon, 08 Aug 2022 09:40:08 +0000 en-US hourly 1 https://mbexc.de/storage/2020/01/X-icon.png Human Mutation – MBExC https://mbexc.de 32 32 Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function https://mbexc.de/biallelic-variants-in-wars1-cause-a-highly-variable-neurodevelopmental-syndrome-and-implicate-a-critical-exon-for-normal-auditory-function/ Mon, 11 Jul 2022 09:33:13 +0000 https://mbexc.de/?p=11933 WARS1 and SARS1: two tRNA synthetases implicated in autosomal recessive microcephaly https://mbexc.de/wars1-and-sars1-two-trna-synthetases-implicated-in-autosomal-recessive-microcephaly/ Tue, 05 Jul 2022 10:41:24 +0000 https://mbexc.de/?p=11598 The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype https://mbexc.de/the-recurrent-postzygotic-pathogenic-variant-p-glu47lys-in-rhoa-causes-a-novel-recognizable-neuroectodermal-phenotype/ Mon, 09 Dec 2019 23:38:31 +0000 https://mbexc.de/mbexc1/?p=1799