Associated Papers
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Drost M et al.
Hgg Advances, 2026
40988334 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.
Simoes C et al.
Bmc Pediatrics, 2022
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