Présentation
Ressources & publications
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2019Journal (source)Nat CommunDefects in t6A tRNA modification due to GON7 and YRDC mutations lead to Gallo...
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2017Journal (source)J. Clin. Invest.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis an...
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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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2017Journal (source)Am. J. Hum. Genet.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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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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2021Journal (source)Kidney Int
Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a rena...
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2023Journal (source)Kidney Int
A wave of deep intronic mutations in X-linked Alport syndrome.
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2023Journal (source)Clin Genet
Overcoming the challenges associated with identification of deep intronic var...
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2022Journal (source)Hum Mutat
Targeted next-generation sequencing in a large series of fetuses with severe ...