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: 605A>T; Glu202Val

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Orphanet Journal Of Rare Diseases

Martín-Hernández, Elena E; Aldámiz-Echevarría, Luis L; Castejón-Ponce, Esperanza E; Pedrón-Giner, Consuelo C; Couce, María Luz ML; Serrano-Nieto, Juliana J; Pintos-Morell, Guillem G; Bélanger-Quintana, Amaya A; Martínez-Pardo, Mercedes M; García-Silva, María Teresa MT; Quijada-Fraile, Pilar P; Vitoria-Miñana, Isidro I; Dalmau, Jaime J; Lama-More, Rosa A RA; Bueno-Delgado, María Amor MA; Del Toro-Riera, Mirella M; García-Jiménez, Inmaculada I; Sierra-Córcoles, Concepción C; Ruiz-Pons, Mónica M; Peña-Quintana, Luis J LJ; Vives-Piñera, Inmaculada I; Moráis, Ana A; Balmaseda-Serrano, Elena E; Meavilla, Silvia S; Sanjurjo-Crespo, Pablo P; Pérez-Cerdá, Celia C

Publication Date: 2014-11-30

Variant appearance in text: FH: 605A>T

PubMed Link: 25433810

Variant Present in the following documents:

• Main text

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