Associated Papers
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Lesurf R et al.
Genome Medicine, 2024
39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM7_ESM.xlsx › Table_S7
Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes.
Reis LM et al.
Human Genetics, 2019
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