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: 215C>A; Thr72Asn

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome.

International Journal Of Gynecological Pathology : Official Journal Of The International Society Of Gynecological Pathologists

Gunnala, Vinay V; Pereira, Nigel N; Irani, Mohamad M; Lilienthal, Debra D; Pirog, Edyta C EC; Soslow, Robert R; Caputo, Thomas A TA; Elias, Rony R; Kligman, Isaac I; Rosenwaks, Zev Z

Publication Date: 2018-05

Variant appearance in text: FH: 215C>A; T72N

PubMed Link: 28700432

Variant Present in the following documents:

• Main text
• pgp-37-256.pdf

View BVdb publication page