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: 555G>T; Gln185His

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.

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

Gaut, Joseph P JP; Jain, Sanjay S; Pfeifer, John D JD; Vigh-Conrad, Katinka A KA; Corliss, Meagan M; Sharma, Mukesh K MK; Heusel, Jonathan W JW; Cottrell, Catherine E CE

Publication Date: 2017-12

Variant appearance in text: FH: Q185H

PubMed Link: 28752844

Variant Present in the following documents:

• Main text
• nihms879774.pdf

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Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.

The Embo Journal

Forneris, Federico F; Wu, Jin J; Xue, Xiaoguang X; Ricklin, Daniel D; Lin, Zhuoer Z; Sfyroera, Georgia G; Tzekou, Apostolia A; Volokhina, Elena E; Granneman, Joke Cm JC; Hauhart, Richard R; Bertram, Paula P; Liszewski, M Kathryn MK; Atkinson, John P JP; Lambris, John D JD; Gros, Piet P

Publication Date: 2016-05-17

Variant appearance in text: FH: Gln185His

PubMed Link: 27013439

Variant Present in the following documents:

• EMBJ-35-1133-s001.pdf

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