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European Journal of Neurology|August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral NeuropathyPauline Jaubert, Camille Loret, Tanya Stojkovic, et al.Cancer Research|July 10, 2020
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using <i>BRCA2</i> Exon 3 as a Model SystemHélène Tubeuf, Sandrine M Caputo, Teresa Sullivan, et al.American Journal of Human Genetics|October 1, 2021
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approachSandrine M Caputo, Lisa Golmard, Mélanie Léone, et al.Human Mutation|May 28, 2019
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classificationMichael T Parsons, Emma Tudini, Hongyan Li, et al.Pageof 5