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: 1342C>G; Leu448Val

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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The expression of type III hyperlipoproteinemia: involvement of lipolysis genes.

European Journal Of Human Genetics : Ejhg

Henneman, Peter P; van der Sman-de Beer, Femke F; Moghaddam, Payman Hanifi PH; Huijts, Petra P; Stalenhoef, Anton F H AF; Kastelein, John J P JJ; van Duijn, Cornelia M CM; Havekes, Louis M LM; Frants, Rune R RR; van Dijk, Ko Willems KW; Smelt, Augustinus H M AH

Publication Date: 2009-05

Variant appearance in text: FH: 1342C>G

PubMed Link: 19034316

Variant Present in the following documents:

• Main text

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