Associated Papers
Clinical characteristics and genetic analysis of six children with carnitine palmitoyltransferase 2 deficiency.
Zhang Y et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2024
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of Medical Genetics, 2020
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