DNA repair-scaffolding protein
Definition:
References:
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[1]. Jingsong Yuan, et al. FIGNL1-containing protein complex is required for efficient homologous recombination repair. Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10640-5. [Content Brief]
[2]. Li Wan, et al. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10646-51. [Content Brief]
[3]. Abdelkader Heddar, et al. A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability. Clin Genet. 2022 Feb;101(2):242-246. [Content Brief]
[4]. Pola Smirin-Yosef, et al. A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 2017 Feb 1;102(2):681-688. [Content Brief]
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