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: 1202G>T; Gly401Val

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Nature Communications

Chen, Ying-Bei YB; Xu, Jianing J; Skanderup, Anders Jacobsen AJ; Dong, Yiyu Y; Brannon, A Rose AR; Wang, Lu L; Won, Helen H HH; Wang, Patricia I PI; Nanjangud, Gouri J GJ; Jungbluth, Achim A AA; Li, Wei W; Ojeda, Virginia V; Hakimi, A Ari AA; Voss, Martin H MH; Schultz, Nikolaus N; Motzer, Robert J RJ; Russo, Paul P; Cheng, Emily H EH; Giancotti, Filippo G FG; Lee, William W; Berger, Michael F MF; Tickoo, Satish K SK; Reuter, Victor E VE; Hsieh, James J JJ

Publication Date: 2016-10-07

Variant appearance in text: FH: G401V

PubMed Link: 27713405

Variant Present in the following documents:

• Main text
• ncomms13131-s1.pdf
• ncomms13131.pdf
• ncomms13131-s3.xlsx, sheet 1
• ncomms13131-s3.xlsx, sheet 2

View BVdb publication page