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: 304G>C; Ala102Pro

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Heat-induced-radiolabeling and click chemistry: A powerful combination for generating multifunctional nanomaterials.

Plos One

Yuan, Hushan H; Wilks, Moses Q MQ; El Fakhri, Georges G; Normandin, Marc D MD; Kaittanis, Charalambos C; Josephson, Lee L

Publication Date: 2017

Variant appearance in text: FH: A102P

PubMed Link: 28225818

Variant Present in the following documents:

• Main text
• pone.0172722.pdf

View BVdb publication page