Medium levels of transcription and replication related chromosomal instability are associated with poor clinical outcome.

Autor: Benhaddou, Ataaillah¹ (AUTHOR), Gaston, Laetitia² (AUTHOR), Pérot, Gaëlle^1,3 (AUTHOR), Desplat, Nelly⁴ (AUTHOR), Leroy, Laura^1,5 (AUTHOR), Le Guellec, Sophie^1,5 (AUTHOR), Ben Haddou, Mohamed⁶ (AUTHOR), Rochaix, Philippe^1,5 (AUTHOR), Valentin, Thibaud^1,7 (AUTHOR), Ferron, Gwenaël^1,8 (AUTHOR), Chevreau, Christine⁷ (AUTHOR), Bui, Binh⁹ (AUTHOR), Stoeckle, Eberhard¹⁰ (AUTHOR), Le Cesne, Axel¹¹ (AUTHOR), Piperno-Neumann, Sophie¹² (AUTHOR), Collin, Françoise¹³ (AUTHOR), Firmin, Nelly¹⁴ (AUTHOR), De Pinieux, Gonzague¹⁵ (AUTHOR), Coindre, Jean-Michel¹⁶ (AUTHOR), Blay, Jean-Yves^17,18 (AUTHOR)

Publikováno v: Scientific Reports. 12/6/2021, Vol. 11 Issue 1, p1-17. 17p.

Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3

Autor: de Sainte Agathe, Jean-Madeleine, Van-Gils, Julien, Lasseaux, Eulalie, Arveiler, Benoît, Lacombe, Didier, Pfirrmann, Clémence, Raclet, Virginie, Gaston, Laetitia, Plaisant, Claudio, Aupy, Jérôme, Trimouille, Aurélien

Publikováno v: In European Journal of Medical Genetics August 2020 63(8)

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