Tag: gcdh antibody
Establishment of a specimen panel for the decentralised technical evaluation of the sensitivity of 31 rapid diagnostic tests for SARS-CoV-2 antigen, Germany, September 2020 to April 2021
IntroductionThe detection of SARS-CoV-2 with speedy diagnostic checks (RDT) has grow to be an essential device to establish contaminated individuals and break an infection chains. These RDT are often primarily based on antigen detection in a lateral circulation strategy. AimWe aimed to determine a complete specimen panel for the decentralised technical analysis of SARS-CoV-2 antigen…
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Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course
WIPI2 is a member of the human WIPI protein household (seven-bladed b-propeller proteins binding phosphatidylinositols, PROPPINs), which play a pivotal position in autophagy and has been implicated within the pathogenesis of a number of neurological situations. The homozygous WIPI2 variant c.745G>A; p.(Val249Met) (NM_015610.4) has not too long ago been related to a neurodevelopmental dysfunction in a single household.…
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