Associated Papers
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees.
Wang Y et al.
Npj Genomic Medicine, 2026
41605952 (PubMed )
Supplement: 41525_2025_539_MOESM1_ESM.pdf
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Identification of biallelic variations of CEP70 in patients with male infertility.
Ruan T et al.
Frontiers in Endocrinology, 2023
36967801 (PubMed )
Supplement: Table_2.xlsx › Patient_1
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