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: 1012A>T; Ile338Leu

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Liang, Yi Y; Yang, Xuexi X; Li, Hong H; Zhu, Anna A; Guo, Zhiwei Z; Li, Ming M

Publication Date: 2018-04-23

Variant appearance in text: FH: 1012A>T

PubMed Link: 29681614

Variant Present in the following documents:

• Main text
• medscimonit-24-2465.pdf

View BVdb publication page