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: 592G>C; Ala198Pro

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.

Journal Of Neurology

Sauvigny, Thomas T; Alawi, Malik M; Krause, Linda L; Renner, Sina S; Spohn, Michael M; Busch, Alice A; Kolbe, Verena V; Altmüller, Janine J; Löscher, Britt-Sabina BS; Franke, Andre A; Brockmann, Christian C; Lieb, Wolfgang W; Westphal, Manfred M; Schmidt, Nils Ole NO; Regelsberger, Jan J; Rosenberger, Georg G

Publication Date: 2020-09

Variant appearance in text: FH: 592G>C

PubMed Link: 32367296

Variant Present in the following documents:

• Main text

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