Publications:

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Boucher, Sophie S; Tai, Fabienne Wong Jun FWJ; Delmaghani, Sedigheh S; Lelli, Andrea A; Singh-Estivalet, Amrit A; Dupont, Typhaine T; Niasme-Grare, Magali M; Michel, Vincent V; Wolff, Nicolas N; Bahloul, Amel A; Bouyacoub, Yosra Y; Bouccara, Didier D; Fraysse, Bernard B; Deguine, Olivier O; Collet, Lionel L; Thai-Van, Hung H; Ionescu, Eugen E; Kemeny, Jean-Louis JL; Giraudet, Fabrice F; Lavieille, Jean-Pierre JP; Devèze, Arnaud A; Roudevitch-Pujol, Anne-Laure AL; Vincent, Christophe C; Renard, Christian C; Franco-Vidal, Valérie V; Thibult-Apt, Claire C; Darrouzet, Vincent V; Bizaguet, Eric E; Coez, Arnaud A; Aschard, Hugues H; Michalski, Nicolas N; Lefevre, Gaëlle M GM; Aubois, Anne A; Avan, Paul P; Bonnet, Crystel C; Petit, Christine C

Publication Date: 2020-12-08

Variant appearance in text: ATS: 4648_4649insAC

PubMed Link: 33229591

Variant Present in the following documents:

• Main text

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