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: CHST9: 127G>A; Val43Met

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics

Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ

Publication Date: 2018-12

Variant appearance in text: CHST9: 127G>A; V43M

PubMed Link: 30602096

Variant Present in the following documents:

• Main text
• gi-2018-16-4-e35.pdf

View BVdb publication page