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: 1384C>G; His462Asp

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Journal Of Neuro-Oncology

Balendran, S S; Liebmann-Reindl, S S; Berghoff, A S AS; Reischer, T T; Popitsch, N N; Geier, C B CB; Kenner, L L; Birner, P P; Streubel, B B; Preusser, M M

Publication Date: 2017-07

Variant appearance in text: FH: 1384C>G; His462Asp

PubMed Link: 28497333

Variant Present in the following documents:

• Main text
• 11060_2017_Article_2459.pdf

View BVdb publication page