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: 691A>C; Ile231Leu

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Novel Assays to Distinguish Between Properdin-Dependent and Properdin-Independent C3 Nephritic Factors Provide Insight Into Properdin-Inhibiting Therapy.

Frontiers In Immunology

Michels, Marloes A H M MAHM; van de Kar, Nicole C A J NCAJ; van den Bos, Ramon M RM; van der Velden, Thea J A M TJAM; van Kraaij, Sanne A W SAW; Sarlea, Sebastian A SA; Gracchi, Valentina V; Oosterveld, Michiel J S MJS; Volokhina, Elena B EB; van den Heuvel, Lambertus P W J LPWJ

Publication Date: 2019

Variant appearance in text: FH: 691A>C

PubMed Link: 31263464

Variant Present in the following documents:

• Main text

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: FH: 691A>C

PubMed Link: 26608663

Variant Present in the following documents:

View BVdb publication page