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
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_1
Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.
Lin PC et al.
Molecular Genetics & Genomic Medicine, 2020
32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1
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