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: 975T>A; Ser325Arg

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Potential interface between ribosomal protein production and pre-rRNA processing.

Molecular And Cellular Biology

Rudra, Dipayan D; Mallick, Jaideep J; Zhao, Yu Y; Warner, Jonathan R JR

Publication Date: 2007-07

Variant appearance in text: FH: S325R

PubMed Link: 17452446

Variant Present in the following documents:

• Main text

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