Presentation
Resources & publications
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2019Journal (source)Am. J. Hum. Genet.TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via De...
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2019Journal (source)Nat Commun
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Gallo...
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2017Journal (source)Nat. Genet.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microc...
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2019Journal (source)J. Biol. Chem.
Endoplasmic reticulum-retained podocin mutants are massively degraded by the ...
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Journal (source)Proc. Natl. Acad. Sci. U.S.A.
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syn...
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2020Journal (source)Stem Cell Res
Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from ...