Associated Papers
De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.
Jelin AC et al.
American Journal of Medical Genetics. Part A, 2024
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
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