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: 1041delT; Gly348fs

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

A few pink papules in an adult woman: Incidental finding leads to diagnosis of hereditary leiomyomatosis and renal cell cancer.

Jaad Case Reports

Young, Kelly Z KZ; Raisanen, Tom D TD; Else, Tobias T; Harms, Paul W PW; Cha, Kelly B KB

Publication Date: 2019-05

Variant appearance in text: FH: 1041delT; Gly348Valfs*9

PubMed Link: 31049386

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page