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List of works by Raphaël Leman

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

scientific article published on 19 March 2019

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

scientific article published on 28 January 2020

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts

scientific article published on 24 June 2019

Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort

scientific article published on 01 September 2018

SpliceLauncher: a tool for detection, annotation and relative quantification of alternative junctions from RNAseq data

scientific article published on 01 March 2020

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