TTN c.69646_69647insAAAAG ;(p.A23216Efs*20)

Variant ID: 2-179441324-G-GCTTTT

NM_001267550.1(TTN):c.69646_69647insAAAAG;(p.A23216Efs*20)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Making sense of missense variants in TTN-related congenital myopathies.

Acta Neuropathologica
Rees, Martin M; Nikoopour, Roksana R; Fukuzawa, Atsushi A; Kho, Ay Lin AL; Fernandez-Garcia, Miguel A MA; Wraige, Elizabeth E; Bodi, Istvan I; Deshpande, Charu C; Özdemir, Özkan Ö; Daimagüler, Hülya-Sevcan HS; Pfuhl, Mark M; Holt, Mark M; Brandmeier, Birgit B; Grover, Sarah S; Fluss, Joël J; Longman, Cheryl C; Farrugia, Maria Elena ME; Matthews, Emma E; Hanna, Michael M; Muntoni, Francesco F; Sarkozy, Anna A; Phadke, Rahul R; Quinlivan, Ros R; Oates, Emily C EC; Schröder, Rolf R; Thiel, Christian C; Reimann, Jens J; Voermans, Nicol N; Erasmus, Corrie C; Kamsteeg, Erik-Jan EJ; Konersman, Chaminda C; Grosmann, Carla C; McKee, Shane S; Tirupathi, Sandya S; Moore, Steven A SA; Wilichowski, Ekkehard E; Hobbiebrunken, Elke E; Dekomien, Gabriele G; Richard, Isabelle I; Van den Bergh, Peter P; Domínguez-González, Cristina C; Cirak, Sebahattin S; Ferreiro, Ana A; Jungbluth, Heinz H; Gautel, Mathias M
Publication Date: 2021-03

Variant appearance in text: TTN: 69646_69647insAAAAG
PubMed Link: 33449170
Variant Present in the following documents:
  • Main text
  • 401_2020_Article_2257.pdf
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