6 results on '"Du, Haowei"'
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2. SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
3. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation
4. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
5. Breast tumours maintain a reservoir of subclonal diversity during expansion
6. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
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