Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
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European Journal of Human Genetics : Ejhg, 2026
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
A case of familial glomuvenous malformation with report of a novel genetic mutation.
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International Journal of Dermatology, 2020
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