Associated Papers
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach.
Jaramillo Oquendo C et al.
Genome Medicine, 2024
39252027 (PubMed )
Supplement: 13073_2024_1381_MOESM2_ESM.xlsx › Table_S1
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D et al.
Brain : a Journal of Neurology, 2022
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