Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: TBX6: 1184G>A; Gly395Asp

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.

Human Mutation

Chen, Weisheng W; Lin, Jiachen J; Wang, Lianlei L; Li, Xiaoxin X; Zhao, Sen S; Liu, Jiaqi J; Akdemir, Zeynep C ZC; Zhao, Yanxue Y; Du, Renqian R; Ye, Yongyu Y; Song, Xiaofei X; Zhang, Yuanqiang Y; Yan, Zihui Z; Yang, Xinzhuang X; Lin, Mao M; Shen, Jianxiong J; Wang, Shengru S; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Zhang, Jianguo J; Delgado, Mauricio R MR; Posey, Jennifer E JE; Qiu, Guixing G; Rios, Jonathan J JJ; Liu, Pengfei P; Wise, Carol A CA; Zhang, Feng F; Wu, Zhihong Z; Lupski, James R JR; Wu, Nan N

Publication Date: 2020-01

Variant appearance in text: TBX6: 1184G>A; Gly395Asp

PubMed Link: 31471994

Variant Present in the following documents:

• Main text

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