Presentation
Scientific Publications
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2024Journal (source)Nat CommunGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with n...
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2024Journal (source)Nat Commun
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity...
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Journal (source)Cold Spring Harbor Laboratory
medRxiv
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Journal (source)Cold Spring Harbor Laboratory
GPATCH11 variants cause mis-splicing and early-onset retin...
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Journal (source)Journal of Allergy and Clinical Immunology
Rab44 regulates murine mast cell-driven anaphylaxis through kinesin-1-depende...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2017Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.