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: 626C>A; Pro209Gln

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.

Orphanet Journal Of Rare Diseases

Semmler, Anna-Lena AL; Sacconi, Sabrina S; Bach, J Elisa JE; Liebe, Claus C; Bürmann, Jan J; Kley, Rudolf A RA; Ferbert, Andreas A; Anderheiden, Roland R; Van den Bergh, Peter P; Martin, Jean-Jacques JJ; De Jonghe, Peter P; Neuen-Jacob, Eva E; Müller, Oliver O; Deschauer, Marcus M; Bergmann, Markus M; Schröder, J Michael JM; Vorgerd, Matthias M; Schulz, Jörg B JB; Weis, Joachim J; Kress, Wolfram W; Claeys, Kristl G KG

Publication Date: 2014-08-01

Variant appearance in text: FH: 626C>A

PubMed Link: 25208129

Variant Present in the following documents:

• Main text

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