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: 1205delA; His402fs

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings.

Molecular Genetics & Genomic Medicine

Zhao, Zichen Z; Wang, Wenhui W; You, Yan Y; Zhu, Lan L; Feng, Fengzhi F

Publication Date: 2020-01

Variant appearance in text: FH: 1205delA

PubMed Link: 31773923

Variant Present in the following documents:

• Main text
• MGG3-8-e1068.pdf

View BVdb publication page