Associated Papers
Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
36306325 (PubMed )
Supplement: pnas.2211194119.sd04.xlsx › BPHunter_pathogenic_BP_variants
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.
Knapp KM et al.
American Journal of Medical Genetics. Part A, 2021
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