Associated Papers
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-escaping_mutations
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting Disorders.
Hara-Isono K et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Oral Squamous Cell Carcinoma in Young Patients Show Higher Rates of EGFR Amplification: Implications for Novel Personalized Therapy.
Satgunaseelan L et al.
Frontiers in Oncology, 2021
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Supplement: Table_1.xlsx › Table_2
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL et al.
Human Mutation, 2008
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
van Bokhoven H et al.
Nature Genetics, 2005
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