Associated Papers
Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.
Orimoto R et al.
Journal of Human Genetics, 2025
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 2024
39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
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