Associated Papers
Multiplexed assays of human disease-relevant mutations reveal UTR dinucleotide composition as a major determinant of RNA stability.
Su JY et al.
Elife, 2025
39964837 (PubMed )
Supplement: elife-97682-supp1.xlsx › Sup_T2_metaTable
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
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