High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Genetics in Medicine, Published online: 07 July 2021; doi:10.1038/s41436-021-01250-6High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Source: Genetics in Medicine - July 7, 2021 Category: Genetics & Stem Cells Authors: Mehdi Benkirane Cecilia Marelli Claire Guissart Agathe Roubertie Elizabeth Ollagnon Ariane Choumert Fr édérique Fluchère Fabienne Ory Magne Yosra Halleb Mathilde Renaud Lise Larrieu David Baux Olivier Patat Idriss Bousquet Jean-Marie Ravel Danielle Cun Source Type: research