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Inserm UMR1068, CNRS UMR7258, Aix Marseille université U105, Institut Paoli Calmettes, CRCM
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Centre de Recherche en Cancérologie de Marseille, CRCM Inserm UMR1068, CNRS UMR7258, Aix Marseille Université U105, Institut Paoli Calmettes France
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Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Not available
S-EPMC11637716
|
biostudies-literature
Cite
The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo.
Not available
S-EPMC2643816
|
biostudies-literature
Cite
Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase.
Not available
S-EPMC10741959
|
biostudies-literature
Cite
RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair.
Not available
S-EPMC4740868
|
biostudies-literature
Cite
Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.
Not available
S-EPMC2924081
|
biostudies-literature
Cite
A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans.
Not available
S-EPMC7788285
|
biostudies-literature
Cite
Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.
Not available
S-EPMC5790499
|
biostudies-literature
Cite
Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining.
Not available
S-EPMC3150875
|
biostudies-literature
Cite
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Not available
S-EPMC11364392
|
biostudies-literature
Cite
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
Not available
S-EPMC4330364
|
biostudies-literature
Cite
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