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: 705T>A; His235Gln

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.

Mayo Clinic Proceedings

Ravindran, Aishwarya A; Fervenza, Fernando C FC; Smith, Richard J H RJH; De Vriese, An S AS; Sethi, Sanjeev S

Publication Date: 2018-08

Variant appearance in text: FH: 705T>A

PubMed Link: 30077216

Variant Present in the following documents:

• Main text

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