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Search for publications relevant for "de novo missense variants"
de novo missense variants
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publication
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 |
Second Faculty of Medicine
publication
Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome
2021 |
First Faculty of Medicine
publication
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
2022 |
Second Faculty of Medicine
publication
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
2022 |
Second Faculty of Medicine
publication
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
2023 |
Second Faculty of Medicine