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: 844G>T; Gly282Cys

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

The torque of rotary F-ATPase can unfold subunit gamma if rotor and stator are cross-linked.

Plos One

Hilbers, Florian F; Junge, Wolfgang W; Sielaff, Hendrik H

Publication Date: 2013

Variant appearance in text: FH: G282C

PubMed Link: 23301103

Variant Present in the following documents:

• Main text

View BVdb publication page