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Keywords: Genetic suppressor
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Journal Articles
Identification of genetic suppressors for a BSCL2 lipodystrophy pathogenic variant in Caenorhabditis elegans
Open AccessIn collection:
Rare Disease Translational Research
Journal:
Disease Models & Mechanisms
Dis Model Mech (2024) 17 (6): dmm050524.
Published: 16 April 2024
... lipodystrophy type 2 (BSCL2). To model BSCL2 disease, we generated an orthologous BSCL2 variant, seip-1(A185P) , in Caenorhabditis elegans . In this study, we conducted an unbiased chemical mutagenesis screen to identify genetic suppressors that restore embryonic viability in the seip-1(A185P) mutant background...
Includes: Supplementary data
