Associated Papers
Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.
Dai Y et al.
Nature Communications, 2025
40268917 (PubMed )
Supplement: 41467_2025_58894_MOESM3_ESM.xlsx › 1._SPATA5
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.
Puusepp S et al.
European Journal of Human Genetics : Ejhg, 2018
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ et al.
American Journal of Human Genetics, 2015
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