Publications:

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.

Hgg Advances

Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H

Publication Date: 2022-04-14

Variant appearance in text: FH: 844G>C

PubMed Link: 35146455

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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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: 844G>C; Gly282Arg

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Bmc Medical Genetics

Chan, Melanie M Y MMY; Barnicoat, Angela A; Mumtaz, Faiz F; Aitchison, Michael M; Side, Lucy L; Brittain, Helen H; Bates, Alan W H AWH; Gale, Daniel P DP

Publication Date: 2017-07-26

Variant appearance in text: FH: 844G>C; Gly282Arg

PubMed Link: 28747166

Variant Present in the following documents:

• Main text
• 12881_2017_Article_436.pdf

View BVdb publication page