Publications:

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 593C>T; Ala198Val

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Cancers

Gieldon, Laura L; William, Doreen D; Hackmann, Karl K; Jahn, Winnie W; Jahn, Arne A; Wagner, Johannes J; Rump, Andreas A; Bechmann, Nicole N; Nölting, Svenja S; Knösel, Thomas T; Gudziol, Volker V; Constantinescu, Georgiana G; Masjkur, Jimmy J; Beuschlein, Felix F; Timmers, Henri Jlm HJ; Canu, Letizia L; Pacak, Karel K; Robledo, Mercedes M; Aust, Daniela D; Schröck, Evelin E; Eisenhofer, Graeme G; Richter, Susan S; Klink, Barbara B

Publication Date: 2019-06-11

Variant appearance in text: FH: 593C>T; Ala198Val

PubMed Link: 31212687

Variant Present in the following documents:

• Main text
• cancers-11-00809.pdf

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Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.

The Embo Journal

Tumbale, Percy P; Schellenberg, Matthew J MJ; Mueller, Geoffrey A GA; Fairweather, Emma E; Watson, Mandy M; Little, Jessica N JN; Krahn, Juno J; Waddell, Ian I; London, Robert E RE; Williams, R Scott RS

Publication Date: 2018-07-13

Variant appearance in text: FH: A198V

PubMed Link: 29934293

Variant Present in the following documents:

• EMBJ-37-e98875.pdf

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