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Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

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https://hal-amu.archives-ouvertes.fr/hal-02959280
Contributor : Marc Bartoli Connect in order to contact the contributor
Submitted on : Monday, October 19, 2020 - 2:34:07 PM
Last modification on : Wednesday, November 3, 2021 - 5:50:28 AM
Long-term archiving on: : Wednesday, January 20, 2021 - 6:50:08 PM

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2020.03.26.009332v1.full.pdf
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Eugénie Dionnet, Aurélia Defour, Nathalie da Silva, Alexandra Salvi, Nicolas Levy, et al.. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩. ⟨hal-02959280⟩

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