Publications:

Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review.

Orphanet Journal Of Rare Diseases

Chayed, Zahraa Z; Kristensen, Lone Krøldrup LK; Ousager, Lilian Bomme LB; Rønlund, Karina K; Bygum, Anette A

Publication Date: 2021-01-18

Variant appearance in text: FH: 595G>C; Ala199Pro

PubMed Link: 33461594

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1653.pdf

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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: 595G>C; Ala199Pro

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page