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: 409C>T; Pro137Ser

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Bennett, Jennifer A JA; Weigelt, Britta B; Chiang, Sarah S; Selenica, Pier P; Chen, Ying-Bei YB; Bialik, Ann A; Bi, Rui R; Schultheis, Anne M AM; Lim, Raymond S RS; Ng, Charlotte K Y CKY; Morales-Oyarvide, Vicente V; Young, Robert H RH; Reuter, Victor E VE; Soslow, Robert A RA; Oliva, Esther E

Publication Date: 2017-10

Variant appearance in text: FH: P137S

PubMed Link: 28664937

Variant Present in the following documents:

• Main text
• NIHMS883213-supplement-3.xlsx, sheet 1
• nihms883213.pdf

View BVdb publication page