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: 314A>C; Glu105Ala

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Zinc modulation of proton currents in a new voltage-gated proton channel suggests a mechanism of inhibition.

The Febs Journal

Chaves, Gustavo G; Bungert-Plümke, Stefanie S; Franzen, Arne A; Mahorivska, Iryna I; Musset, Boris B

Publication Date: 2020-11

Variant appearance in text: FH: E105A

PubMed Link: 32160407

Variant Present in the following documents:

• FEBS-287-4996.pdf

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MDC1 PST-repeat region promotes histone H2AX-independent chromatin association and DNA damage tolerance.

Nature Communications

Salguero, Israel I; Belotserkovskaya, Rimma R; Coates, Julia J; Sczaniecka-Clift, Matylda M; Demir, Mukerrem M; Jhujh, Satpal S; Wilson, Marcus D MD; Jackson, Stephen P SP

Publication Date: 2019-11-15

Variant appearance in text: FH: E105A

PubMed Link: 31729360

Variant Present in the following documents:

• 41467_2019_Article_12929.pdf

View BVdb publication page