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: 1123delA; Thr375fs

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

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Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.

Familial Cancer

Hol, J A JA; Jongmans, M C J MCJ; Littooij, A S AS; de Krijger, R R RR; Kuiper, R P RP; van Harssel, J J T JJT; Mensenkamp, A A; Simons, M M; Tytgat, G A M GAM; van den Heuvel-Eibrink, M M MM; van Grotel, M M

Publication Date: 2020-01

Variant appearance in text: FH: 1123del

PubMed Link: 31792767

Variant Present in the following documents:

• 10689_2019_Article_155.pdf

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: FH: 1123delA

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

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